Incidental Mutation 'IGL01465:Fbn2'
ID 88090
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbn2
Ensembl Gene ENSMUSG00000024598
Gene Name fibrillin 2
Synonyms sy, Sne, Fib-2
Accession Numbers
Essential gene? Probably essential (E-score: 0.923) question?
Stock # IGL01465
Quality Score
Status
Chromosome 18
Chromosomal Location 58141689-58343200 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 58336905 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 117 (N117Y)
Ref Sequence ENSEMBL: ENSMUSP00000025497 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025497]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000025497
AA Change: N117Y

PolyPhen 2 Score 0.667 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000025497
Gene: ENSMUSG00000024598
AA Change: N117Y

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
low complexity region 29 52 N/A INTRINSIC
low complexity region 68 77 N/A INTRINSIC
EGF 148 176 1.15e1 SMART
EGF 179 208 1.26e-2 SMART
Pfam:TB 224 262 3.7e-10 PFAM
EGF_CA 276 317 8.3e-12 SMART
EGF_CA 318 359 9.25e-10 SMART
Pfam:TB 374 416 4.3e-13 PFAM
low complexity region 435 450 N/A INTRINSIC
low complexity region 463 475 N/A INTRINSIC
EGF 490 527 1.13e-4 SMART
EGF_CA 528 567 2.26e-13 SMART
EGF_CA 568 609 9.03e-13 SMART
EGF_CA 610 650 6.2e-11 SMART
EGF_CA 651 691 7.75e-12 SMART
Pfam:TB 707 748 5.2e-15 PFAM
EGF_CA 761 802 6.29e-12 SMART
EGF_CA 803 844 1.97e-13 SMART
EGF_CA 845 884 1.61e-9 SMART
Pfam:TB 899 935 1.8e-9 PFAM
EGF_CA 948 989 4.7e-11 SMART
Pfam:TB 1004 1044 1.3e-16 PFAM
EGF_CA 1066 1107 3.05e-10 SMART
EGF_CA 1108 1150 2.19e-11 SMART
EGF_CA 1151 1192 2.04e-11 SMART
EGF_CA 1193 1234 3.15e-12 SMART
EGF_CA 1235 1275 1.82e-8 SMART
EGF_CA 1276 1317 9.91e-10 SMART
EGF_CA 1318 1359 1.48e-8 SMART
EGF_CA 1360 1400 6.54e-10 SMART
EGF_CA 1401 1441 4.63e-10 SMART
EGF_CA 1442 1483 7.75e-12 SMART
EGF_CA 1484 1524 5.23e-9 SMART
EGF_CA 1525 1565 2.13e-9 SMART
Pfam:TB 1585 1625 3.4e-15 PFAM
EGF_CA 1643 1684 6.74e-12 SMART
EGF_CA 1685 1726 1.06e-9 SMART
Pfam:TB 1741 1783 1.2e-17 PFAM
EGF_CA 1801 1842 7.34e-13 SMART
EGF_CA 1843 1884 4.15e-12 SMART
EGF_CA 1885 1926 5.23e-9 SMART
EGF_CA 1927 1965 5.87e-12 SMART
EGF_CA 1966 2008 1.11e-12 SMART
EGF_CA 2009 2048 1.26e-11 SMART
EGF_CA 2049 2090 7.12e-11 SMART
Pfam:TB 2105 2147 1.2e-15 PFAM
EGF_CA 2164 2205 2.89e-11 SMART
EGF_CA 2206 2245 1.1e-11 SMART
EGF_CA 2246 2286 3.76e-10 SMART
EGF_CA 2287 2330 1.44e-6 SMART
EGF_CA 2331 2372 1.16e-10 SMART
Pfam:TB 2387 2429 1.9e-16 PFAM
EGF_CA 2442 2483 8.43e-13 SMART
EGF_CA 2484 2524 4.96e-10 SMART
EGF_CA 2525 2563 7.63e-11 SMART
EGF_CA 2564 2606 6.44e-9 SMART
EGF_CA 2607 2646 2.28e-9 SMART
EGF_CA 2647 2687 1.79e-7 SMART
EGF_CA 2688 2727 3.45e-9 SMART
low complexity region 2774 2786 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a component of connective tissue microfibrils and may be involved in elastic fiber assembly. Mutations in this gene cause congenital contractural arachnodactyly. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for spontaneous, chemically-induced, and targeted null mutations show bilateral syndactyly with fusion of both soft and hard tissues. Deafness found in an X-ray induced allelic mutant is apparently due to the joint disruption of a linked gene. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A G 6: 23,114,838 (GRCm39) probably null Het
Abracl A T 10: 17,887,399 (GRCm39) I76N probably damaging Het
Akap12 C T 10: 4,306,886 (GRCm39) T1232I probably damaging Het
Clcn6 A T 4: 148,105,908 (GRCm39) probably benign Het
Cpsf2 C A 12: 101,963,592 (GRCm39) D440E probably damaging Het
Csf2ra A G 19: 61,214,436 (GRCm39) V243A possibly damaging Het
Cyp4f18 T A 8: 72,756,288 (GRCm39) H96L probably benign Het
Dvl2 T A 11: 69,897,180 (GRCm39) I294N probably damaging Het
Gdpd3 A G 7: 126,367,829 (GRCm39) I221V possibly damaging Het
Grk2 A T 19: 4,340,886 (GRCm39) C221S probably damaging Het
Idi1 T C 13: 8,940,415 (GRCm39) I199T probably benign Het
Klhl6 T C 16: 19,801,572 (GRCm39) E61G probably damaging Het
Lig1 T A 7: 13,030,317 (GRCm39) S431R probably benign Het
Lrg1 T C 17: 56,427,705 (GRCm39) E89G probably benign Het
Lrrk2 A G 15: 91,613,128 (GRCm39) K751E probably benign Het
Macf1 T A 4: 123,384,514 (GRCm39) T1128S probably benign Het
Nphs1 T C 7: 30,186,139 (GRCm39) *1243R probably null Het
Rere G A 4: 150,594,451 (GRCm39) V354I unknown Het
Safb A G 17: 56,909,974 (GRCm39) probably benign Het
Slc2a10 C A 2: 165,359,597 (GRCm39) A487D possibly damaging Het
Slc7a12 T A 3: 14,564,383 (GRCm39) S85R possibly damaging Het
Sorbs3 G A 14: 70,432,958 (GRCm39) probably benign Het
Ttn A G 2: 76,600,135 (GRCm39) M19013T probably damaging Het
Utp4 A G 8: 107,621,330 (GRCm39) T36A probably benign Het
Vmn2r111 A T 17: 22,767,718 (GRCm39) F593Y probably benign Het
Other mutations in Fbn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00694:Fbn2 APN 18 58,170,881 (GRCm39) missense possibly damaging 0.81
IGL00780:Fbn2 APN 18 58,229,060 (GRCm39) missense probably damaging 1.00
IGL00923:Fbn2 APN 18 58,145,397 (GRCm39) missense probably benign 0.00
IGL01011:Fbn2 APN 18 58,228,312 (GRCm39) splice site probably benign
IGL01123:Fbn2 APN 18 58,237,153 (GRCm39) missense possibly damaging 0.62
IGL01304:Fbn2 APN 18 58,194,817 (GRCm39) missense probably damaging 0.97
IGL01339:Fbn2 APN 18 58,246,442 (GRCm39) missense possibly damaging 0.75
IGL01608:Fbn2 APN 18 58,186,776 (GRCm39) nonsense probably null
IGL01682:Fbn2 APN 18 58,205,743 (GRCm39) missense probably damaging 1.00
IGL01752:Fbn2 APN 18 58,209,049 (GRCm39) splice site probably null
IGL01764:Fbn2 APN 18 58,178,423 (GRCm39) missense probably damaging 1.00
IGL02002:Fbn2 APN 18 58,247,625 (GRCm39) missense probably benign 0.01
IGL02010:Fbn2 APN 18 58,170,794 (GRCm39) missense probably damaging 0.99
IGL02029:Fbn2 APN 18 58,342,675 (GRCm39) missense probably benign 0.04
IGL02037:Fbn2 APN 18 58,229,087 (GRCm39) missense probably damaging 1.00
IGL02350:Fbn2 APN 18 58,237,067 (GRCm39) missense possibly damaging 0.71
IGL02357:Fbn2 APN 18 58,237,067 (GRCm39) missense possibly damaging 0.71
IGL02653:Fbn2 APN 18 58,209,777 (GRCm39) missense probably benign
IGL03233:Fbn2 APN 18 58,235,449 (GRCm39) missense probably benign 0.39
IGL03347:Fbn2 APN 18 58,146,737 (GRCm39) missense probably damaging 1.00
IGL03410:Fbn2 APN 18 58,183,315 (GRCm39) missense possibly damaging 0.95
pinch UTSW 18 58,202,256 (GRCm39) missense probably damaging 1.00
stick UTSW 18 58,204,891 (GRCm39) missense possibly damaging 0.94
tweak UTSW 18 58,191,461 (GRCm39) missense probably damaging 1.00
BB009:Fbn2 UTSW 18 58,153,555 (GRCm39) missense possibly damaging 0.61
BB019:Fbn2 UTSW 18 58,153,555 (GRCm39) missense possibly damaging 0.61
PIT4434001:Fbn2 UTSW 18 58,229,134 (GRCm39) missense probably damaging 0.99
R0020:Fbn2 UTSW 18 58,238,236 (GRCm39) missense probably damaging 1.00
R0069:Fbn2 UTSW 18 58,202,256 (GRCm39) missense probably damaging 1.00
R0107:Fbn2 UTSW 18 58,189,275 (GRCm39) missense probably benign 0.00
R0116:Fbn2 UTSW 18 58,235,445 (GRCm39) nonsense probably null
R0277:Fbn2 UTSW 18 58,178,389 (GRCm39) missense probably damaging 1.00
R0284:Fbn2 UTSW 18 58,183,362 (GRCm39) splice site probably benign
R0316:Fbn2 UTSW 18 58,246,397 (GRCm39) missense probably damaging 1.00
R0323:Fbn2 UTSW 18 58,178,389 (GRCm39) missense probably damaging 1.00
R0421:Fbn2 UTSW 18 58,160,876 (GRCm39) splice site probably benign
R0455:Fbn2 UTSW 18 58,168,408 (GRCm39) missense probably damaging 1.00
R0504:Fbn2 UTSW 18 58,172,532 (GRCm39) missense possibly damaging 0.94
R0520:Fbn2 UTSW 18 58,146,821 (GRCm39) missense probably damaging 1.00
R0632:Fbn2 UTSW 18 58,170,819 (GRCm39) missense probably damaging 1.00
R0638:Fbn2 UTSW 18 58,178,446 (GRCm39) missense probably damaging 0.98
R0645:Fbn2 UTSW 18 58,191,461 (GRCm39) missense probably damaging 1.00
R1051:Fbn2 UTSW 18 58,145,425 (GRCm39) missense probably damaging 0.99
R1209:Fbn2 UTSW 18 58,203,088 (GRCm39) missense probably benign 0.00
R1319:Fbn2 UTSW 18 58,333,682 (GRCm39) missense possibly damaging 0.88
R1400:Fbn2 UTSW 18 58,213,265 (GRCm39) missense possibly damaging 0.90
R1437:Fbn2 UTSW 18 58,186,731 (GRCm39) missense possibly damaging 0.68
R1463:Fbn2 UTSW 18 58,143,452 (GRCm39) missense probably benign
R1612:Fbn2 UTSW 18 58,194,824 (GRCm39) missense probably damaging 1.00
R1623:Fbn2 UTSW 18 58,181,620 (GRCm39) missense possibly damaging 0.61
R1629:Fbn2 UTSW 18 58,159,610 (GRCm39) missense probably damaging 1.00
R1639:Fbn2 UTSW 18 58,191,534 (GRCm39) missense probably benign 0.41
R1722:Fbn2 UTSW 18 58,181,124 (GRCm39) critical splice acceptor site probably null
R1749:Fbn2 UTSW 18 58,183,348 (GRCm39) missense probably benign 0.35
R1802:Fbn2 UTSW 18 58,186,048 (GRCm39) nonsense probably null
R1850:Fbn2 UTSW 18 58,172,377 (GRCm39) splice site probably benign
R1913:Fbn2 UTSW 18 58,194,814 (GRCm39) missense probably damaging 1.00
R2045:Fbn2 UTSW 18 58,223,730 (GRCm39) missense probably damaging 1.00
R2064:Fbn2 UTSW 18 58,181,921 (GRCm39) missense probably damaging 0.99
R2143:Fbn2 UTSW 18 58,186,065 (GRCm39) missense possibly damaging 0.65
R2144:Fbn2 UTSW 18 58,186,065 (GRCm39) missense possibly damaging 0.65
R2149:Fbn2 UTSW 18 58,235,397 (GRCm39) splice site probably null
R2207:Fbn2 UTSW 18 58,214,471 (GRCm39) nonsense probably null
R2219:Fbn2 UTSW 18 58,186,035 (GRCm39) missense possibly damaging 0.79
R2263:Fbn2 UTSW 18 58,228,248 (GRCm39) splice site probably benign
R2375:Fbn2 UTSW 18 58,169,038 (GRCm39) missense probably damaging 1.00
R2424:Fbn2 UTSW 18 58,336,859 (GRCm39) missense probably damaging 0.99
R2504:Fbn2 UTSW 18 58,226,431 (GRCm39) missense probably damaging 0.99
R2879:Fbn2 UTSW 18 58,202,314 (GRCm39) missense probably damaging 0.97
R3040:Fbn2 UTSW 18 58,226,459 (GRCm39) missense probably damaging 1.00
R3080:Fbn2 UTSW 18 58,282,122 (GRCm39) missense probably damaging 0.97
R3625:Fbn2 UTSW 18 58,194,814 (GRCm39) missense probably damaging 1.00
R3901:Fbn2 UTSW 18 58,199,083 (GRCm39) missense probably damaging 0.97
R4089:Fbn2 UTSW 18 58,186,841 (GRCm39) missense probably benign 0.01
R4133:Fbn2 UTSW 18 58,229,034 (GRCm39) missense possibly damaging 0.82
R4155:Fbn2 UTSW 18 58,156,359 (GRCm39) nonsense probably null
R4288:Fbn2 UTSW 18 58,168,411 (GRCm39) missense probably damaging 0.98
R4289:Fbn2 UTSW 18 58,168,411 (GRCm39) missense probably damaging 0.98
R4363:Fbn2 UTSW 18 58,282,122 (GRCm39) missense probably damaging 0.97
R4559:Fbn2 UTSW 18 58,209,146 (GRCm39) missense probably benign 0.00
R4601:Fbn2 UTSW 18 58,186,805 (GRCm39) missense probably damaging 1.00
R4609:Fbn2 UTSW 18 58,323,341 (GRCm39) nonsense probably null
R4626:Fbn2 UTSW 18 58,146,819 (GRCm39) nonsense probably null
R4638:Fbn2 UTSW 18 58,143,376 (GRCm39) missense probably benign 0.01
R4675:Fbn2 UTSW 18 58,173,265 (GRCm39) missense possibly damaging 0.95
R4707:Fbn2 UTSW 18 58,189,344 (GRCm39) missense probably damaging 1.00
R4758:Fbn2 UTSW 18 58,159,458 (GRCm39) missense probably benign 0.00
R4945:Fbn2 UTSW 18 58,183,325 (GRCm39) missense possibly damaging 0.53
R4955:Fbn2 UTSW 18 58,191,455 (GRCm39) missense possibly damaging 0.61
R4980:Fbn2 UTSW 18 58,143,703 (GRCm39) missense probably benign 0.05
R4998:Fbn2 UTSW 18 58,205,703 (GRCm39) missense probably damaging 1.00
R5133:Fbn2 UTSW 18 58,172,412 (GRCm39) missense probably damaging 0.99
R5322:Fbn2 UTSW 18 58,172,387 (GRCm39) missense probably benign 0.00
R5414:Fbn2 UTSW 18 58,226,477 (GRCm39) missense probably damaging 0.96
R5538:Fbn2 UTSW 18 58,204,973 (GRCm39) missense probably benign 0.22
R5557:Fbn2 UTSW 18 58,248,731 (GRCm39) missense probably benign 0.00
R5754:Fbn2 UTSW 18 58,257,383 (GRCm39) missense probably benign 0.04
R5769:Fbn2 UTSW 18 58,238,271 (GRCm39) missense probably damaging 1.00
R5790:Fbn2 UTSW 18 58,209,768 (GRCm39) missense probably benign 0.34
R5830:Fbn2 UTSW 18 58,247,541 (GRCm39) missense probably benign 0.01
R5845:Fbn2 UTSW 18 58,186,840 (GRCm39) missense possibly damaging 0.89
R5880:Fbn2 UTSW 18 58,156,354 (GRCm39) nonsense probably null
R5907:Fbn2 UTSW 18 58,178,409 (GRCm39) missense probably damaging 1.00
R5948:Fbn2 UTSW 18 58,170,121 (GRCm39) missense probably damaging 1.00
R5955:Fbn2 UTSW 18 58,177,328 (GRCm39) missense probably damaging 1.00
R5974:Fbn2 UTSW 18 58,181,992 (GRCm39) missense probably damaging 1.00
R6010:Fbn2 UTSW 18 58,202,596 (GRCm39) missense probably benign 0.31
R6024:Fbn2 UTSW 18 58,209,908 (GRCm39) missense probably benign 0.03
R6037:Fbn2 UTSW 18 58,177,295 (GRCm39) missense probably benign 0.05
R6037:Fbn2 UTSW 18 58,177,295 (GRCm39) missense probably benign 0.05
R6315:Fbn2 UTSW 18 58,188,025 (GRCm39) critical splice acceptor site probably null
R6437:Fbn2 UTSW 18 58,246,435 (GRCm39) missense probably damaging 1.00
R6519:Fbn2 UTSW 18 58,196,647 (GRCm39) missense possibly damaging 0.61
R6520:Fbn2 UTSW 18 58,235,462 (GRCm39) missense probably damaging 1.00
R6734:Fbn2 UTSW 18 58,169,032 (GRCm39) missense probably damaging 1.00
R6755:Fbn2 UTSW 18 58,246,405 (GRCm39) missense possibly damaging 0.89
R6789:Fbn2 UTSW 18 58,143,686 (GRCm39) missense probably benign 0.00
R6801:Fbn2 UTSW 18 58,246,420 (GRCm39) missense probably benign 0.04
R6862:Fbn2 UTSW 18 58,257,393 (GRCm39) missense probably benign 0.04
R6900:Fbn2 UTSW 18 58,209,903 (GRCm39) missense probably benign
R6906:Fbn2 UTSW 18 58,204,891 (GRCm39) missense possibly damaging 0.94
R6919:Fbn2 UTSW 18 58,257,259 (GRCm39) splice site probably null
R6950:Fbn2 UTSW 18 58,168,993 (GRCm39) missense probably null 0.21
R6985:Fbn2 UTSW 18 58,201,460 (GRCm39) missense probably damaging 1.00
R7056:Fbn2 UTSW 18 58,209,798 (GRCm39) missense probably benign
R7199:Fbn2 UTSW 18 58,186,833 (GRCm39) nonsense probably null
R7219:Fbn2 UTSW 18 58,186,099 (GRCm39) missense probably benign 0.04
R7226:Fbn2 UTSW 18 58,170,142 (GRCm39) missense probably damaging 1.00
R7260:Fbn2 UTSW 18 58,199,188 (GRCm39) missense probably benign 0.14
R7414:Fbn2 UTSW 18 58,229,122 (GRCm39) missense probably damaging 1.00
R7485:Fbn2 UTSW 18 58,204,912 (GRCm39) missense possibly damaging 0.50
R7523:Fbn2 UTSW 18 58,199,152 (GRCm39) missense probably benign 0.01
R7549:Fbn2 UTSW 18 58,153,536 (GRCm39) nonsense probably null
R7619:Fbn2 UTSW 18 58,213,299 (GRCm39) missense possibly damaging 0.46
R7638:Fbn2 UTSW 18 58,238,208 (GRCm39) missense probably damaging 1.00
R7789:Fbn2 UTSW 18 58,172,385 (GRCm39) missense probably benign 0.22
R7932:Fbn2 UTSW 18 58,153,555 (GRCm39) missense possibly damaging 0.61
R8013:Fbn2 UTSW 18 58,237,153 (GRCm39) missense possibly damaging 0.62
R8076:Fbn2 UTSW 18 58,159,496 (GRCm39) nonsense probably null
R8300:Fbn2 UTSW 18 58,342,687 (GRCm39) missense probably benign
R8345:Fbn2 UTSW 18 58,191,503 (GRCm39) missense probably damaging 1.00
R8487:Fbn2 UTSW 18 58,153,462 (GRCm39) missense possibly damaging 0.53
R8520:Fbn2 UTSW 18 58,171,270 (GRCm39) critical splice donor site probably null
R8781:Fbn2 UTSW 18 58,194,719 (GRCm39) missense possibly damaging 0.88
R8801:Fbn2 UTSW 18 58,287,021 (GRCm39) missense probably damaging 1.00
R8857:Fbn2 UTSW 18 58,286,933 (GRCm39) missense probably damaging 1.00
R8878:Fbn2 UTSW 18 58,257,318 (GRCm39) missense probably benign 0.30
R8909:Fbn2 UTSW 18 58,192,508 (GRCm39) missense possibly damaging 0.88
R8973:Fbn2 UTSW 18 58,286,928 (GRCm39) missense probably damaging 1.00
R8975:Fbn2 UTSW 18 58,286,928 (GRCm39) missense probably damaging 1.00
R8979:Fbn2 UTSW 18 58,286,928 (GRCm39) missense probably damaging 1.00
R8991:Fbn2 UTSW 18 58,239,395 (GRCm39) missense probably damaging 1.00
R9003:Fbn2 UTSW 18 58,176,591 (GRCm39) missense probably damaging 1.00
R9205:Fbn2 UTSW 18 58,192,428 (GRCm39) missense probably damaging 1.00
R9215:Fbn2 UTSW 18 58,209,747 (GRCm39) missense probably damaging 1.00
R9263:Fbn2 UTSW 18 58,257,344 (GRCm39) missense probably damaging 1.00
R9307:Fbn2 UTSW 18 58,342,856 (GRCm39) missense probably benign
R9337:Fbn2 UTSW 18 58,342,723 (GRCm39) missense probably benign
R9403:Fbn2 UTSW 18 58,199,179 (GRCm39) missense probably damaging 1.00
R9501:Fbn2 UTSW 18 58,209,130 (GRCm39) missense probably damaging 1.00
R9503:Fbn2 UTSW 18 58,171,313 (GRCm39) missense probably damaging 1.00
R9509:Fbn2 UTSW 18 58,247,550 (GRCm39) missense probably benign 0.22
R9561:Fbn2 UTSW 18 58,181,611 (GRCm39) nonsense probably null
R9565:Fbn2 UTSW 18 58,228,298 (GRCm39) missense probably benign 0.20
R9652:Fbn2 UTSW 18 58,146,722 (GRCm39) critical splice donor site probably null
R9659:Fbn2 UTSW 18 58,342,654 (GRCm39) missense probably damaging 0.98
R9679:Fbn2 UTSW 18 58,201,433 (GRCm39) missense probably damaging 1.00
R9683:Fbn2 UTSW 18 58,186,099 (GRCm39) missense probably benign 0.04
R9773:Fbn2 UTSW 18 58,143,481 (GRCm39) missense probably benign
X0062:Fbn2 UTSW 18 58,189,285 (GRCm39) missense probably damaging 1.00
Z1177:Fbn2 UTSW 18 58,202,262 (GRCm39) missense probably damaging 1.00
Z1177:Fbn2 UTSW 18 58,188,554 (GRCm39) missense probably benign 0.00
Z1177:Fbn2 UTSW 18 58,143,451 (GRCm39) missense probably benign 0.00
Posted On 2013-11-18