Incidental Mutation 'IGL00091:Cacna2d1'
ID |
1672 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cacna2d1
|
Ensembl Gene |
ENSMUSG00000040118 |
Gene Name |
calcium channel, voltage-dependent, alpha2/delta subunit 1 |
Synonyms |
Cchl2a, Cacna2, Ca(v)alpha2delta1 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.346)
|
Stock # |
IGL00091
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
16139689-16579509 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 16417942 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 155
(F155L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142881
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039370]
[ENSMUST00000078272]
[ENSMUST00000101581]
[ENSMUST00000115281]
[ENSMUST00000167946]
[ENSMUST00000180204]
[ENSMUST00000199704]
|
AlphaFold |
O08532 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000039370
AA Change: F155L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000049457 Gene: ENSMUSG00000040118 AA Change: F155L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
Pfam:VWA_N
|
104 |
223 |
6.3e-42 |
PFAM |
VWA
|
251 |
425 |
5.16e-25 |
SMART |
Pfam:Cache_1
|
446 |
536 |
1e-31 |
PFAM |
Pfam:VGCC_alpha2
|
562 |
655 |
1e-46 |
PFAM |
low complexity region
|
675 |
686 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000078272
AA Change: F155L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000077391 Gene: ENSMUSG00000040118 AA Change: F155L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
Pfam:VWA_N
|
104 |
223 |
1.2e-45 |
PFAM |
VWA
|
251 |
425 |
5.16e-25 |
SMART |
Pfam:Cache_1
|
446 |
537 |
1.1e-30 |
PFAM |
Pfam:VGCC_alpha2
|
543 |
634 |
3.3e-53 |
PFAM |
low complexity region
|
656 |
667 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000101581
AA Change: F155L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099117 Gene: ENSMUSG00000040118 AA Change: F155L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
Pfam:VWA_N
|
104 |
223 |
1.2e-45 |
PFAM |
VWA
|
251 |
425 |
5.16e-25 |
SMART |
Pfam:Cache_1
|
446 |
537 |
1.1e-30 |
PFAM |
Pfam:VGCC_alpha2
|
543 |
636 |
1.2e-59 |
PFAM |
low complexity region
|
663 |
674 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000115281
AA Change: F155L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000110936 Gene: ENSMUSG00000040118 AA Change: F155L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
Pfam:VWA_N
|
104 |
223 |
6.2e-46 |
PFAM |
VWA
|
251 |
425 |
5.16e-25 |
SMART |
Pfam:Cache_1
|
446 |
533 |
3.8e-30 |
PFAM |
Pfam:VGCC_alpha2
|
538 |
631 |
6.2e-60 |
PFAM |
low complexity region
|
658 |
669 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000167946
AA Change: F155L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000131507 Gene: ENSMUSG00000040118 AA Change: F155L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
Pfam:VWA_N
|
104 |
223 |
3.8e-46 |
PFAM |
VWA
|
251 |
425 |
5.16e-25 |
SMART |
Pfam:Cache_1
|
446 |
537 |
2.6e-30 |
PFAM |
Pfam:VGCC_alpha2
|
543 |
636 |
5.5e-56 |
PFAM |
low complexity region
|
663 |
674 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000180204
AA Change: F155L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000136260 Gene: ENSMUSG00000040118 AA Change: F155L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
Pfam:VWA_N
|
104 |
223 |
6.2e-46 |
PFAM |
VWA
|
251 |
425 |
5.16e-25 |
SMART |
Pfam:Cache_1
|
446 |
533 |
3.8e-30 |
PFAM |
Pfam:VGCC_alpha2
|
538 |
631 |
6.2e-60 |
PFAM |
low complexity region
|
658 |
669 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000199704
AA Change: F155L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000142881 Gene: ENSMUSG00000040118 AA Change: F155L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
Pfam:VWA_N
|
104 |
223 |
1.2e-45 |
PFAM |
VWA
|
251 |
425 |
5.16e-25 |
SMART |
Pfam:Cache_1
|
446 |
533 |
6.3e-30 |
PFAM |
Pfam:VGCC_alpha2
|
538 |
629 |
3.3e-53 |
PFAM |
low complexity region
|
651 |
662 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200270
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a regulatory component of the voltage-dependent calcium channel complex. The product of this gene is a proprotein that is proteolytically processed into alpha-2 and delta subunits, which are linked by a disulfide bond. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013] PHENOTYPE: Mice with a point mutation allele exhibit abnormal CNS synaptic transmission and decreased response to pregabalin. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abraxas2 |
A |
T |
7: 132,485,157 (GRCm39) |
Y400F |
probably benign |
Het |
Adamts8 |
C |
A |
9: 30,864,796 (GRCm39) |
T429K |
probably damaging |
Het |
Adgrv1 |
C |
T |
13: 81,726,220 (GRCm39) |
D602N |
probably damaging |
Het |
Ano7 |
A |
T |
1: 93,329,888 (GRCm39) |
H775L |
probably benign |
Het |
Apoo-ps |
A |
T |
13: 107,551,134 (GRCm39) |
|
noncoding transcript |
Het |
Arid2 |
T |
C |
15: 96,270,183 (GRCm39) |
V1432A |
probably benign |
Het |
Atoh1 |
T |
C |
6: 64,706,568 (GRCm39) |
S88P |
possibly damaging |
Het |
C130050O18Rik |
A |
G |
5: 139,400,601 (GRCm39) |
E218G |
probably damaging |
Het |
Car4 |
C |
T |
11: 84,856,593 (GRCm39) |
P294S |
probably damaging |
Het |
Cyp1a2 |
G |
T |
9: 57,589,352 (GRCm39) |
S154* |
probably null |
Het |
Cyp3a25 |
A |
T |
5: 145,938,273 (GRCm39) |
Y68* |
probably null |
Het |
Dmbt1 |
C |
A |
7: 130,681,270 (GRCm39) |
|
probably benign |
Het |
Dnajc22 |
T |
A |
15: 98,999,059 (GRCm39) |
F81L |
possibly damaging |
Het |
Eml5 |
G |
A |
12: 98,839,468 (GRCm39) |
|
probably benign |
Het |
Fpgs |
A |
T |
2: 32,576,559 (GRCm39) |
|
probably benign |
Het |
Gab2 |
T |
C |
7: 96,951,650 (GRCm39) |
S537P |
possibly damaging |
Het |
Gmds |
G |
A |
13: 32,418,373 (GRCm39) |
S37L |
probably damaging |
Het |
Ipo13 |
T |
C |
4: 117,760,602 (GRCm39) |
E626G |
probably benign |
Het |
Kcng1 |
T |
C |
2: 168,110,684 (GRCm39) |
H160R |
probably benign |
Het |
Lama3 |
A |
G |
18: 12,713,349 (GRCm39) |
T1608A |
probably benign |
Het |
Lama4 |
A |
C |
10: 38,948,801 (GRCm39) |
S855R |
probably damaging |
Het |
Ltbp1 |
C |
T |
17: 75,532,333 (GRCm39) |
H454Y |
probably damaging |
Het |
Map3k14 |
C |
A |
11: 103,118,405 (GRCm39) |
G594C |
probably damaging |
Het |
Mcph1 |
A |
G |
8: 18,682,636 (GRCm39) |
N591S |
possibly damaging |
Het |
Moxd1 |
G |
A |
10: 24,155,762 (GRCm39) |
V289I |
probably damaging |
Het |
Mptx2 |
T |
G |
1: 173,102,455 (GRCm39) |
N78T |
probably damaging |
Het |
Muc4 |
G |
A |
16: 32,754,086 (GRCm38) |
G1321R |
probably benign |
Het |
Muc6 |
A |
C |
7: 141,218,497 (GRCm39) |
S2059A |
probably benign |
Het |
Nup50 |
T |
A |
15: 84,819,605 (GRCm39) |
F293Y |
probably benign |
Het |
Ogn |
A |
G |
13: 49,774,514 (GRCm39) |
Y219C |
probably damaging |
Het |
Pdia3 |
T |
C |
2: 121,244,659 (GRCm39) |
L47P |
probably damaging |
Het |
Piwil4 |
A |
T |
9: 14,614,393 (GRCm39) |
D786E |
probably damaging |
Het |
Pspc1 |
A |
G |
14: 57,009,168 (GRCm39) |
L222P |
probably damaging |
Het |
Ptchd3 |
T |
A |
11: 121,721,972 (GRCm39) |
Y282N |
probably damaging |
Het |
Reln |
C |
A |
5: 22,244,563 (GRCm39) |
G805V |
possibly damaging |
Het |
Serpini2 |
T |
C |
3: 75,156,549 (GRCm39) |
Y327C |
probably damaging |
Het |
Spire2 |
A |
G |
8: 124,080,798 (GRCm39) |
D14G |
probably damaging |
Het |
Stab2 |
A |
T |
10: 86,705,070 (GRCm39) |
|
probably null |
Het |
Timeless |
T |
C |
10: 128,077,577 (GRCm39) |
L219P |
probably damaging |
Het |
Tmem63a |
C |
T |
1: 180,790,653 (GRCm39) |
T437M |
probably damaging |
Het |
Tslp |
A |
G |
18: 32,948,448 (GRCm39) |
|
probably benign |
Het |
Ttbk2 |
C |
A |
2: 120,579,314 (GRCm39) |
G534* |
probably null |
Het |
Uggt1 |
T |
C |
1: 36,218,633 (GRCm39) |
|
probably benign |
Het |
Vmn2r118 |
T |
C |
17: 55,899,708 (GRCm39) |
E732G |
probably damaging |
Het |
Zfhx2 |
G |
A |
14: 55,304,022 (GRCm39) |
P1321S |
possibly damaging |
Het |
Zfp58 |
A |
G |
13: 67,639,114 (GRCm39) |
V459A |
probably benign |
Het |
Zfp831 |
T |
C |
2: 174,487,451 (GRCm39) |
S709P |
possibly damaging |
Het |
|
Other mutations in Cacna2d1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00470:Cacna2d1
|
APN |
5 |
16,451,654 (GRCm39) |
splice site |
probably benign |
|
IGL00495:Cacna2d1
|
APN |
5 |
16,575,607 (GRCm39) |
missense |
probably benign |
0.05 |
IGL00538:Cacna2d1
|
APN |
5 |
16,451,783 (GRCm39) |
nonsense |
probably null |
|
IGL00990:Cacna2d1
|
APN |
5 |
16,140,067 (GRCm39) |
missense |
probably benign |
0.23 |
IGL01079:Cacna2d1
|
APN |
5 |
16,575,646 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01344:Cacna2d1
|
APN |
5 |
16,575,629 (GRCm39) |
missense |
probably benign |
0.26 |
IGL01597:Cacna2d1
|
APN |
5 |
16,531,390 (GRCm39) |
splice site |
probably benign |
|
IGL01645:Cacna2d1
|
APN |
5 |
16,217,389 (GRCm39) |
splice site |
probably null |
|
IGL01959:Cacna2d1
|
APN |
5 |
16,417,895 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02397:Cacna2d1
|
APN |
5 |
16,525,162 (GRCm39) |
splice site |
probably benign |
|
IGL03152:Cacna2d1
|
APN |
5 |
16,527,566 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03216:Cacna2d1
|
APN |
5 |
16,558,840 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03374:Cacna2d1
|
APN |
5 |
16,561,821 (GRCm39) |
missense |
probably damaging |
0.99 |
PIT4283001:Cacna2d1
|
UTSW |
5 |
16,507,292 (GRCm39) |
missense |
probably benign |
0.31 |
PIT4585001:Cacna2d1
|
UTSW |
5 |
16,531,342 (GRCm39) |
missense |
probably damaging |
1.00 |
R0158:Cacna2d1
|
UTSW |
5 |
16,566,815 (GRCm39) |
splice site |
probably benign |
|
R0457:Cacna2d1
|
UTSW |
5 |
16,472,414 (GRCm39) |
missense |
probably damaging |
1.00 |
R0477:Cacna2d1
|
UTSW |
5 |
16,399,796 (GRCm39) |
critical splice donor site |
probably null |
|
R0483:Cacna2d1
|
UTSW |
5 |
16,564,025 (GRCm39) |
missense |
probably damaging |
0.98 |
R0532:Cacna2d1
|
UTSW |
5 |
16,567,271 (GRCm39) |
missense |
probably benign |
0.13 |
R0552:Cacna2d1
|
UTSW |
5 |
16,533,041 (GRCm39) |
missense |
probably damaging |
1.00 |
R0924:Cacna2d1
|
UTSW |
5 |
16,570,860 (GRCm39) |
missense |
possibly damaging |
0.79 |
R0930:Cacna2d1
|
UTSW |
5 |
16,570,860 (GRCm39) |
missense |
possibly damaging |
0.79 |
R1144:Cacna2d1
|
UTSW |
5 |
16,527,595 (GRCm39) |
critical splice donor site |
probably null |
|
R1164:Cacna2d1
|
UTSW |
5 |
16,566,874 (GRCm39) |
critical splice donor site |
probably null |
|
R1398:Cacna2d1
|
UTSW |
5 |
16,562,764 (GRCm39) |
missense |
possibly damaging |
0.47 |
R1440:Cacna2d1
|
UTSW |
5 |
16,560,493 (GRCm39) |
missense |
probably damaging |
1.00 |
R1543:Cacna2d1
|
UTSW |
5 |
16,471,716 (GRCm39) |
missense |
possibly damaging |
0.62 |
R1573:Cacna2d1
|
UTSW |
5 |
16,575,625 (GRCm39) |
missense |
probably damaging |
1.00 |
R1633:Cacna2d1
|
UTSW |
5 |
16,525,114 (GRCm39) |
missense |
probably damaging |
1.00 |
R1673:Cacna2d1
|
UTSW |
5 |
16,504,988 (GRCm39) |
missense |
probably damaging |
1.00 |
R1750:Cacna2d1
|
UTSW |
5 |
16,469,286 (GRCm39) |
missense |
probably benign |
0.01 |
R1753:Cacna2d1
|
UTSW |
5 |
16,507,352 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1966:Cacna2d1
|
UTSW |
5 |
16,538,783 (GRCm39) |
nonsense |
probably null |
|
R2163:Cacna2d1
|
UTSW |
5 |
16,567,317 (GRCm39) |
missense |
probably damaging |
1.00 |
R2258:Cacna2d1
|
UTSW |
5 |
16,562,287 (GRCm39) |
missense |
probably damaging |
1.00 |
R2870:Cacna2d1
|
UTSW |
5 |
16,517,566 (GRCm39) |
missense |
probably damaging |
1.00 |
R2870:Cacna2d1
|
UTSW |
5 |
16,517,566 (GRCm39) |
missense |
probably damaging |
1.00 |
R4303:Cacna2d1
|
UTSW |
5 |
16,507,246 (GRCm39) |
splice site |
probably null |
|
R4804:Cacna2d1
|
UTSW |
5 |
16,564,206 (GRCm39) |
missense |
probably damaging |
0.97 |
R5032:Cacna2d1
|
UTSW |
5 |
16,564,068 (GRCm39) |
missense |
probably damaging |
1.00 |
R5080:Cacna2d1
|
UTSW |
5 |
16,567,394 (GRCm39) |
critical splice donor site |
probably null |
|
R5466:Cacna2d1
|
UTSW |
5 |
16,451,712 (GRCm39) |
missense |
probably damaging |
1.00 |
R5469:Cacna2d1
|
UTSW |
5 |
16,557,676 (GRCm39) |
missense |
probably damaging |
0.99 |
R5564:Cacna2d1
|
UTSW |
5 |
16,517,517 (GRCm39) |
missense |
probably damaging |
1.00 |
R5655:Cacna2d1
|
UTSW |
5 |
16,507,333 (GRCm39) |
missense |
probably damaging |
1.00 |
R5688:Cacna2d1
|
UTSW |
5 |
16,563,950 (GRCm39) |
missense |
probably damaging |
0.99 |
R5729:Cacna2d1
|
UTSW |
5 |
16,140,037 (GRCm39) |
nonsense |
probably null |
|
R6005:Cacna2d1
|
UTSW |
5 |
16,566,819 (GRCm39) |
missense |
probably damaging |
1.00 |
R6343:Cacna2d1
|
UTSW |
5 |
16,527,562 (GRCm39) |
missense |
probably benign |
0.09 |
R6485:Cacna2d1
|
UTSW |
5 |
16,559,655 (GRCm39) |
missense |
probably damaging |
1.00 |
R6486:Cacna2d1
|
UTSW |
5 |
16,524,448 (GRCm39) |
splice site |
probably null |
|
R6625:Cacna2d1
|
UTSW |
5 |
16,567,391 (GRCm39) |
missense |
probably null |
1.00 |
R6700:Cacna2d1
|
UTSW |
5 |
16,570,458 (GRCm39) |
missense |
probably damaging |
1.00 |
R6706:Cacna2d1
|
UTSW |
5 |
16,531,338 (GRCm39) |
missense |
probably damaging |
1.00 |
R6711:Cacna2d1
|
UTSW |
5 |
16,505,039 (GRCm39) |
missense |
probably damaging |
1.00 |
R7025:Cacna2d1
|
UTSW |
5 |
16,557,666 (GRCm39) |
nonsense |
probably null |
|
R7035:Cacna2d1
|
UTSW |
5 |
16,451,670 (GRCm39) |
missense |
probably damaging |
1.00 |
R7086:Cacna2d1
|
UTSW |
5 |
16,554,414 (GRCm39) |
missense |
probably damaging |
1.00 |
R7110:Cacna2d1
|
UTSW |
5 |
16,562,782 (GRCm39) |
missense |
probably damaging |
0.99 |
R7268:Cacna2d1
|
UTSW |
5 |
16,575,586 (GRCm39) |
missense |
probably damaging |
0.99 |
R7310:Cacna2d1
|
UTSW |
5 |
16,519,914 (GRCm39) |
missense |
probably damaging |
1.00 |
R7471:Cacna2d1
|
UTSW |
5 |
16,139,973 (GRCm39) |
start gained |
probably benign |
|
R7608:Cacna2d1
|
UTSW |
5 |
16,564,022 (GRCm39) |
missense |
probably damaging |
1.00 |
R7712:Cacna2d1
|
UTSW |
5 |
16,567,347 (GRCm39) |
missense |
probably damaging |
0.98 |
R8014:Cacna2d1
|
UTSW |
5 |
16,547,689 (GRCm39) |
missense |
possibly damaging |
0.55 |
R8161:Cacna2d1
|
UTSW |
5 |
16,519,935 (GRCm39) |
missense |
probably damaging |
1.00 |
R8669:Cacna2d1
|
UTSW |
5 |
16,140,013 (GRCm39) |
start codon destroyed |
probably null |
0.53 |
R8670:Cacna2d1
|
UTSW |
5 |
16,140,013 (GRCm39) |
start codon destroyed |
probably null |
0.53 |
R8682:Cacna2d1
|
UTSW |
5 |
16,558,837 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8697:Cacna2d1
|
UTSW |
5 |
16,570,865 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8807:Cacna2d1
|
UTSW |
5 |
16,472,452 (GRCm39) |
missense |
probably damaging |
1.00 |
R8834:Cacna2d1
|
UTSW |
5 |
16,471,735 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9135:Cacna2d1
|
UTSW |
5 |
16,558,850 (GRCm39) |
missense |
probably damaging |
1.00 |
R9158:Cacna2d1
|
UTSW |
5 |
16,140,039 (GRCm39) |
missense |
probably benign |
|
R9169:Cacna2d1
|
UTSW |
5 |
16,451,757 (GRCm39) |
missense |
probably damaging |
1.00 |
R9294:Cacna2d1
|
UTSW |
5 |
16,217,396 (GRCm39) |
missense |
probably damaging |
0.97 |
R9296:Cacna2d1
|
UTSW |
5 |
16,564,068 (GRCm39) |
missense |
probably damaging |
1.00 |
R9393:Cacna2d1
|
UTSW |
5 |
16,140,013 (GRCm39) |
start codon destroyed |
probably null |
0.53 |
R9394:Cacna2d1
|
UTSW |
5 |
16,140,013 (GRCm39) |
start codon destroyed |
probably null |
0.53 |
R9395:Cacna2d1
|
UTSW |
5 |
16,140,013 (GRCm39) |
start codon destroyed |
probably null |
0.53 |
R9484:Cacna2d1
|
UTSW |
5 |
16,561,831 (GRCm39) |
missense |
probably damaging |
1.00 |
RF024:Cacna2d1
|
UTSW |
5 |
16,230,774 (GRCm39) |
missense |
possibly damaging |
0.80 |
Z1088:Cacna2d1
|
UTSW |
5 |
16,399,761 (GRCm39) |
missense |
probably benign |
0.02 |
|
Posted On |
2011-07-12 |