Incidental Mutation 'IGL02967:Lrp8'
ID |
365631 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Lrp8
|
Ensembl Gene |
ENSMUSG00000028613 |
Gene Name |
low density lipoprotein receptor-related protein 8, apolipoprotein e receptor |
Synonyms |
4932703M08Rik, Lr8b, apoER2 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.477)
|
Stock # |
IGL02967
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
107659337-107734037 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 107718431 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 678
(Q678K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102343
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030356]
[ENSMUST00000106732]
[ENSMUST00000106733]
[ENSMUST00000126573]
[ENSMUST00000143601]
|
AlphaFold |
Q924X6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030356
AA Change: Q763K
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000030356 Gene: ENSMUSG00000028613 AA Change: Q763K
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
LDLa
|
40 |
77 |
3.24e-13 |
SMART |
EGF_like
|
79 |
117 |
3.29e1 |
SMART |
LDLa
|
79 |
118 |
2.45e-13 |
SMART |
LDLa
|
120 |
159 |
1.19e-11 |
SMART |
LDLa
|
160 |
197 |
3.52e-14 |
SMART |
LDLa
|
199 |
239 |
8.09e-14 |
SMART |
LDLa
|
250 |
288 |
4.05e-14 |
SMART |
LDLa
|
290 |
327 |
4.58e-13 |
SMART |
EGF
|
331 |
367 |
2.83e-5 |
SMART |
EGF_CA
|
368 |
407 |
9.91e-10 |
SMART |
LY
|
434 |
476 |
8.44e-4 |
SMART |
LY
|
481 |
523 |
2.29e-14 |
SMART |
LY
|
524 |
567 |
5.96e-13 |
SMART |
LY
|
568 |
610 |
4.21e-13 |
SMART |
LY
|
612 |
654 |
7.24e-3 |
SMART |
EGF
|
681 |
727 |
1.56e1 |
SMART |
low complexity region
|
729 |
745 |
N/A |
INTRINSIC |
low complexity region
|
783 |
798 |
N/A |
INTRINSIC |
transmembrane domain
|
818 |
840 |
N/A |
INTRINSIC |
low complexity region
|
863 |
869 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000106731
AA Change: Q565K
|
SMART Domains |
Protein: ENSMUSP00000102342 Gene: ENSMUSG00000028613 AA Change: Q565K
Domain | Start | End | E-Value | Type |
EGF_like
|
9 |
47 |
3.29e1 |
SMART |
LDLa
|
9 |
48 |
2.45e-13 |
SMART |
LDLa
|
50 |
89 |
1.19e-11 |
SMART |
LDLa
|
93 |
130 |
4.58e-13 |
SMART |
EGF
|
134 |
170 |
2.83e-5 |
SMART |
EGF_CA
|
171 |
210 |
9.91e-10 |
SMART |
LY
|
237 |
279 |
8.44e-4 |
SMART |
LY
|
284 |
326 |
2.29e-14 |
SMART |
LY
|
327 |
370 |
5.96e-13 |
SMART |
LY
|
371 |
413 |
4.21e-13 |
SMART |
LY
|
415 |
457 |
7.24e-3 |
SMART |
EGF
|
484 |
530 |
1.56e1 |
SMART |
low complexity region
|
532 |
548 |
N/A |
INTRINSIC |
low complexity region
|
586 |
601 |
N/A |
INTRINSIC |
transmembrane domain
|
621 |
643 |
N/A |
INTRINSIC |
low complexity region
|
666 |
672 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106732
AA Change: Q678K
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000102343 Gene: ENSMUSG00000028613 AA Change: Q678K
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
LDLa
|
40 |
77 |
3.24e-13 |
SMART |
EGF_like
|
79 |
117 |
3.29e1 |
SMART |
LDLa
|
79 |
118 |
2.45e-13 |
SMART |
LDLa
|
120 |
159 |
1.19e-11 |
SMART |
LDLa
|
164 |
201 |
4.58e-13 |
SMART |
LDLa
|
204 |
244 |
1.4e-8 |
SMART |
EGF
|
246 |
282 |
2.83e-5 |
SMART |
EGF_CA
|
283 |
322 |
9.91e-10 |
SMART |
LY
|
349 |
391 |
8.44e-4 |
SMART |
LY
|
396 |
438 |
2.29e-14 |
SMART |
LY
|
439 |
482 |
5.96e-13 |
SMART |
LY
|
483 |
525 |
4.21e-13 |
SMART |
LY
|
527 |
569 |
7.24e-3 |
SMART |
EGF
|
596 |
642 |
1.56e1 |
SMART |
low complexity region
|
644 |
660 |
N/A |
INTRINSIC |
low complexity region
|
698 |
713 |
N/A |
INTRINSIC |
transmembrane domain
|
733 |
755 |
N/A |
INTRINSIC |
low complexity region
|
778 |
784 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106733
AA Change: Q763K
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000102344 Gene: ENSMUSG00000028613 AA Change: Q763K
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
LDLa
|
40 |
77 |
3.24e-13 |
SMART |
EGF_like
|
79 |
117 |
3.29e1 |
SMART |
LDLa
|
79 |
118 |
2.45e-13 |
SMART |
LDLa
|
120 |
159 |
1.19e-11 |
SMART |
LDLa
|
160 |
197 |
3.52e-14 |
SMART |
LDLa
|
199 |
239 |
8.09e-14 |
SMART |
LDLa
|
250 |
288 |
4.05e-14 |
SMART |
LDLa
|
290 |
327 |
4.58e-13 |
SMART |
EGF
|
331 |
367 |
2.83e-5 |
SMART |
EGF_CA
|
368 |
407 |
9.91e-10 |
SMART |
LY
|
434 |
476 |
8.44e-4 |
SMART |
LY
|
481 |
523 |
2.29e-14 |
SMART |
LY
|
524 |
567 |
5.96e-13 |
SMART |
LY
|
568 |
610 |
4.21e-13 |
SMART |
LY
|
612 |
654 |
7.24e-3 |
SMART |
EGF
|
681 |
727 |
1.56e1 |
SMART |
low complexity region
|
729 |
745 |
N/A |
INTRINSIC |
low complexity region
|
783 |
798 |
N/A |
INTRINSIC |
transmembrane domain
|
818 |
840 |
N/A |
INTRINSIC |
low complexity region
|
863 |
869 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123140
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000126573
|
SMART Domains |
Protein: ENSMUSP00000118020 Gene: ENSMUSG00000028613
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
LDLa
|
40 |
77 |
3.24e-13 |
SMART |
EGF_like
|
79 |
117 |
3.29e1 |
SMART |
LDLa
|
79 |
118 |
2.45e-13 |
SMART |
LDLa
|
120 |
159 |
1.19e-11 |
SMART |
LDLa
|
163 |
200 |
4.58e-13 |
SMART |
EGF
|
204 |
240 |
2.83e-5 |
SMART |
EGF_CA
|
241 |
280 |
9.91e-10 |
SMART |
LY
|
307 |
349 |
8.44e-4 |
SMART |
LY
|
354 |
396 |
2.29e-14 |
SMART |
LY
|
397 |
440 |
5.96e-13 |
SMART |
LY
|
441 |
483 |
4.21e-13 |
SMART |
LY
|
485 |
527 |
7.24e-3 |
SMART |
EGF
|
554 |
600 |
1.56e1 |
SMART |
transmembrane domain
|
616 |
638 |
N/A |
INTRINSIC |
low complexity region
|
661 |
667 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135022
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143601
AA Change: Q804K
PolyPhen 2
Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000115854 Gene: ENSMUSG00000028613 AA Change: Q804K
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
LDLa
|
40 |
77 |
3.24e-13 |
SMART |
EGF_like
|
79 |
117 |
3.29e1 |
SMART |
LDLa
|
79 |
118 |
2.45e-13 |
SMART |
LDLa
|
120 |
159 |
1.19e-11 |
SMART |
LDLa
|
160 |
197 |
3.52e-14 |
SMART |
LDLa
|
199 |
239 |
8.09e-14 |
SMART |
LDLa
|
250 |
288 |
4.05e-14 |
SMART |
LDLa
|
290 |
327 |
4.58e-13 |
SMART |
LDLa
|
330 |
370 |
1.4e-8 |
SMART |
EGF
|
372 |
408 |
2.83e-5 |
SMART |
EGF_CA
|
409 |
448 |
9.91e-10 |
SMART |
LY
|
475 |
517 |
8.44e-4 |
SMART |
LY
|
522 |
564 |
2.29e-14 |
SMART |
LY
|
565 |
608 |
5.96e-13 |
SMART |
LY
|
609 |
651 |
4.21e-13 |
SMART |
LY
|
653 |
695 |
7.24e-3 |
SMART |
EGF
|
722 |
768 |
1.56e1 |
SMART |
low complexity region
|
770 |
786 |
N/A |
INTRINSIC |
low complexity region
|
824 |
839 |
N/A |
INTRINSIC |
transmembrane domain
|
859 |
881 |
N/A |
INTRINSIC |
low complexity region
|
904 |
910 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146552
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the low density lipoprotein receptor (LDLR) family. Low density lipoprotein receptors are cell surface proteins that play roles in both signal transduction and receptor-mediated endocytosis of specific ligands for lysosomal degradation. The encoded protein plays a critical role in the migration of neurons during development by mediating Reelin signaling, and also functions as a receptor for the cholesterol transport protein apolipoprotein E. Expression of this gene may be a marker for major depressive disorder. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2011] PHENOTYPE: Homozygotes for a targeted null mutation exhibit impaired granule cell migration, radial glial scaffold formation, contextual fear conditioning, and long-term potentiation. Mutant males have abnormal sperm and are sterile. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
G |
11: 9,328,291 (GRCm39) |
T3455A |
probably damaging |
Het |
Abca8a |
G |
A |
11: 109,941,762 (GRCm39) |
P1169L |
probably damaging |
Het |
Ablim3 |
T |
A |
18: 61,959,574 (GRCm39) |
K272* |
probably null |
Het |
Abtb3 |
A |
G |
10: 85,469,646 (GRCm39) |
T856A |
probably benign |
Het |
Acin1 |
A |
G |
14: 54,880,210 (GRCm39) |
V574A |
possibly damaging |
Het |
Acot4 |
A |
T |
12: 84,090,235 (GRCm39) |
I311L |
probably benign |
Het |
Akap9 |
C |
T |
5: 4,026,164 (GRCm39) |
A1273V |
probably benign |
Het |
Ap1g2 |
T |
A |
14: 55,342,479 (GRCm39) |
|
probably benign |
Het |
Apob |
A |
T |
12: 8,065,366 (GRCm39) |
K4112* |
probably null |
Het |
Aspdh |
A |
G |
7: 44,114,963 (GRCm39) |
|
probably null |
Het |
Atf7ip |
T |
C |
6: 136,583,725 (GRCm39) |
I1252T |
probably damaging |
Het |
Avpr1a |
A |
G |
10: 122,285,367 (GRCm39) |
T220A |
possibly damaging |
Het |
Bdp1 |
A |
G |
13: 100,178,778 (GRCm39) |
F1856S |
possibly damaging |
Het |
Cit |
A |
T |
5: 116,083,896 (GRCm39) |
N743I |
probably benign |
Het |
Clvs2 |
T |
C |
10: 33,471,784 (GRCm39) |
K174E |
probably damaging |
Het |
Cyp4f40 |
A |
T |
17: 32,893,222 (GRCm39) |
Q351L |
probably damaging |
Het |
Dmbt1 |
G |
T |
7: 130,672,919 (GRCm39) |
V550L |
possibly damaging |
Het |
Edem1 |
T |
G |
6: 108,813,738 (GRCm39) |
S178A |
probably damaging |
Het |
Fam222b |
C |
T |
11: 78,044,934 (GRCm39) |
A165V |
probably benign |
Het |
Fer |
T |
C |
17: 64,203,262 (GRCm39) |
V64A |
possibly damaging |
Het |
Fggy |
T |
G |
4: 95,814,986 (GRCm39) |
F535C |
possibly damaging |
Het |
Fkbp15 |
A |
T |
4: 62,222,627 (GRCm39) |
S1091T |
probably damaging |
Het |
Fstl5 |
G |
A |
3: 76,229,498 (GRCm39) |
V100M |
probably damaging |
Het |
Fut7 |
G |
T |
2: 25,315,155 (GRCm39) |
V91L |
probably damaging |
Het |
Gemin4 |
A |
T |
11: 76,103,067 (GRCm39) |
C565S |
probably damaging |
Het |
Gzmm |
C |
T |
10: 79,530,897 (GRCm39) |
T233I |
possibly damaging |
Het |
Hps5 |
A |
T |
7: 46,418,804 (GRCm39) |
L789Q |
possibly damaging |
Het |
Krt32 |
G |
A |
11: 99,974,876 (GRCm39) |
S357F |
possibly damaging |
Het |
Lrig2 |
C |
T |
3: 104,401,512 (GRCm39) |
|
probably benign |
Het |
Mmp27 |
C |
A |
9: 7,571,591 (GRCm39) |
Q45K |
probably benign |
Het |
Myh1 |
A |
G |
11: 67,099,896 (GRCm39) |
D602G |
possibly damaging |
Het |
Ncoa1 |
G |
T |
12: 4,345,294 (GRCm39) |
H684Q |
probably damaging |
Het |
Nol9 |
T |
C |
4: 152,125,559 (GRCm39) |
V170A |
possibly damaging |
Het |
Notch2 |
A |
G |
3: 98,053,460 (GRCm39) |
D2041G |
probably damaging |
Het |
Nrg3 |
G |
T |
14: 38,390,256 (GRCm39) |
|
probably benign |
Het |
Nuak1 |
T |
A |
10: 84,276,085 (GRCm39) |
H46L |
probably damaging |
Het |
Pdzd2 |
G |
T |
15: 12,374,427 (GRCm39) |
Q1903K |
probably benign |
Het |
Pik3c2g |
T |
C |
6: 139,913,554 (GRCm39) |
V616A |
probably damaging |
Het |
Ppp6c |
A |
G |
2: 39,116,229 (GRCm39) |
Y9H |
probably damaging |
Het |
Prdm11 |
A |
T |
2: 92,843,234 (GRCm39) |
F75Y |
probably damaging |
Het |
Prelid1 |
G |
A |
13: 55,472,219 (GRCm39) |
V132I |
probably benign |
Het |
Prom1 |
A |
G |
5: 44,201,740 (GRCm39) |
S227P |
probably damaging |
Het |
Psmb5 |
G |
A |
14: 54,854,083 (GRCm39) |
R132C |
probably benign |
Het |
Pus10 |
A |
G |
11: 23,668,602 (GRCm39) |
N360D |
probably damaging |
Het |
Pygm |
G |
A |
19: 6,443,868 (GRCm39) |
V610M |
probably damaging |
Het |
Setd1a |
A |
G |
7: 127,384,349 (GRCm39) |
|
probably benign |
Het |
Sfmbt1 |
T |
A |
14: 30,538,759 (GRCm39) |
W793R |
probably damaging |
Het |
Slc25a4 |
A |
G |
8: 46,662,187 (GRCm39) |
L157P |
probably damaging |
Het |
Sost |
T |
G |
11: 101,855,084 (GRCm39) |
E75A |
possibly damaging |
Het |
Tdrd9 |
A |
G |
12: 111,958,922 (GRCm39) |
S119G |
possibly damaging |
Het |
Tepsin |
A |
G |
11: 119,984,954 (GRCm39) |
I238T |
probably benign |
Het |
Tfr2 |
T |
A |
5: 137,581,081 (GRCm39) |
L507* |
probably null |
Het |
Tmem106a |
T |
C |
11: 101,477,121 (GRCm39) |
I110T |
possibly damaging |
Het |
Tmem38a |
A |
T |
8: 73,339,926 (GRCm39) |
D298V |
possibly damaging |
Het |
Tmprss12 |
A |
T |
15: 100,183,262 (GRCm39) |
R201S |
probably benign |
Het |
Ugt2b36 |
T |
C |
5: 87,238,759 (GRCm39) |
T271A |
possibly damaging |
Het |
Virma |
T |
G |
4: 11,514,096 (GRCm39) |
V650G |
probably benign |
Het |
Vmn1r220 |
A |
T |
13: 23,368,162 (GRCm39) |
I178N |
probably damaging |
Het |
Zfp609 |
A |
G |
9: 65,604,901 (GRCm39) |
S1276P |
possibly damaging |
Het |
Zfp809 |
A |
G |
9: 22,146,398 (GRCm39) |
Y29C |
probably damaging |
Het |
|
Other mutations in Lrp8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01308:Lrp8
|
APN |
4 |
107,721,273 (GRCm39) |
missense |
probably benign |
0.04 |
IGL01514:Lrp8
|
APN |
4 |
107,712,881 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02058:Lrp8
|
APN |
4 |
107,727,306 (GRCm39) |
missense |
probably benign |
0.25 |
IGL02398:Lrp8
|
APN |
4 |
107,726,245 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02398:Lrp8
|
APN |
4 |
107,704,691 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02706:Lrp8
|
APN |
4 |
107,660,516 (GRCm39) |
nonsense |
probably null |
|
IGL02754:Lrp8
|
APN |
4 |
107,691,952 (GRCm39) |
splice site |
probably null |
|
IGL03080:Lrp8
|
APN |
4 |
107,712,996 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02837:Lrp8
|
UTSW |
4 |
107,718,478 (GRCm39) |
missense |
probably benign |
0.01 |
R0312:Lrp8
|
UTSW |
4 |
107,664,052 (GRCm39) |
intron |
probably benign |
|
R0440:Lrp8
|
UTSW |
4 |
107,726,295 (GRCm39) |
missense |
probably damaging |
0.99 |
R0598:Lrp8
|
UTSW |
4 |
107,714,434 (GRCm39) |
missense |
possibly damaging |
0.73 |
R1627:Lrp8
|
UTSW |
4 |
107,711,613 (GRCm39) |
missense |
probably damaging |
0.99 |
R1967:Lrp8
|
UTSW |
4 |
107,717,168 (GRCm39) |
missense |
probably damaging |
1.00 |
R2183:Lrp8
|
UTSW |
4 |
107,660,462 (GRCm39) |
missense |
probably damaging |
1.00 |
R2208:Lrp8
|
UTSW |
4 |
107,712,987 (GRCm39) |
missense |
probably damaging |
1.00 |
R2325:Lrp8
|
UTSW |
4 |
107,721,206 (GRCm39) |
missense |
probably benign |
0.03 |
R3712:Lrp8
|
UTSW |
4 |
107,705,499 (GRCm39) |
missense |
probably benign |
0.08 |
R4093:Lrp8
|
UTSW |
4 |
107,700,468 (GRCm39) |
nonsense |
probably null |
|
R4706:Lrp8
|
UTSW |
4 |
107,718,470 (GRCm39) |
missense |
probably benign |
0.00 |
R4765:Lrp8
|
UTSW |
4 |
107,711,592 (GRCm39) |
missense |
probably damaging |
1.00 |
R4840:Lrp8
|
UTSW |
4 |
107,727,234 (GRCm39) |
missense |
possibly damaging |
0.79 |
R4900:Lrp8
|
UTSW |
4 |
107,664,006 (GRCm39) |
intron |
probably benign |
|
R5033:Lrp8
|
UTSW |
4 |
107,691,952 (GRCm39) |
splice site |
probably null |
|
R5280:Lrp8
|
UTSW |
4 |
107,711,518 (GRCm39) |
missense |
probably damaging |
1.00 |
R5381:Lrp8
|
UTSW |
4 |
107,726,307 (GRCm39) |
missense |
probably damaging |
1.00 |
R5935:Lrp8
|
UTSW |
4 |
107,714,493 (GRCm39) |
missense |
probably damaging |
1.00 |
R5972:Lrp8
|
UTSW |
4 |
107,726,267 (GRCm39) |
missense |
probably damaging |
1.00 |
R6076:Lrp8
|
UTSW |
4 |
107,704,656 (GRCm39) |
missense |
possibly damaging |
0.81 |
R6343:Lrp8
|
UTSW |
4 |
107,726,353 (GRCm39) |
splice site |
probably null |
|
R6805:Lrp8
|
UTSW |
4 |
107,711,517 (GRCm39) |
missense |
probably damaging |
0.99 |
R7100:Lrp8
|
UTSW |
4 |
107,659,647 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7262:Lrp8
|
UTSW |
4 |
107,704,661 (GRCm39) |
missense |
probably benign |
|
R7717:Lrp8
|
UTSW |
4 |
107,691,940 (GRCm39) |
missense |
probably benign |
0.00 |
R7949:Lrp8
|
UTSW |
4 |
107,660,524 (GRCm39) |
missense |
probably damaging |
1.00 |
R8350:Lrp8
|
UTSW |
4 |
107,704,661 (GRCm39) |
missense |
probably benign |
|
R8371:Lrp8
|
UTSW |
4 |
107,726,268 (GRCm39) |
missense |
probably damaging |
1.00 |
R9272:Lrp8
|
UTSW |
4 |
107,717,158 (GRCm39) |
missense |
probably benign |
0.19 |
R9461:Lrp8
|
UTSW |
4 |
107,700,515 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9567:Lrp8
|
UTSW |
4 |
107,711,469 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Lrp8
|
UTSW |
4 |
107,700,529 (GRCm39) |
missense |
probably benign |
0.02 |
|
Posted On |
2015-12-18 |