ClinGen Classification:
Classification
Likely Pathogenic
Condition
nonsyndromic genetic deafness
VCEP
Hearing Loss VCEP
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000688 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00000575 (NFE)
Revel Score:
ENST00000338581
0.843
ENST00000339598 (MANE Plus Clinical)
0.843
ENST00000402415
0.843
ENST00000272371 (MANE Select)
0.843
ENST00000403946
0.843
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26461855G>A , CM000664.2:g.26461855G>A | GRCh38 |
| NC_000002.11:g.26684723G>A , CM000664.1:g.26684723G>A | GRCh37 |
| NC_000002.10:g.26538227G>A | NCBI36 |
| NG_009937.1:g.101844C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272371.7:c.5374C>T MANE Select | ENSP00000272371.2:p.Arg1792Cys | |
| ENST00000339598.8:c.3073C>T MANE Plus Clinical | ENSP00000344521.3:p.Arg1025Cys | |
| ENST00000402415.8:c.3133C>T | ENSP00000383906.4:p.Arg1045Cys | |
| ENST00000272371.6:c.5374C>T | ENSP00000272371.2:p.Arg1792Cys | |
| ENST00000338581.10:c.3073C>T | ENSP00000345137.6:p.Arg1025Cys | |
| ENST00000339598.7:c.3073C>T | ENSP00000344521.3:p.Arg1025Cys | |
| ENST00000402415.7:c.3304C>T | ENSP00000383906.3:p.Arg1102Cys | |
| ENST00000403946.7:c.5374C>T | ENSP00000385255.3:p.Arg1792Cys | |
| NM_001287489.1:c.5374C>T | NP_001274418.1:p.Arg1792Cys | |
| NM_004802.3:c.3073C>T | NP_004793.2:p.Arg1025Cys | |
| NM_194248.2:c.5374C>T | NP_919224.1:p.Arg1792Cys | |
| NM_194322.2:c.3304C>T | NP_919303.1:p.Arg1102Cys | |
| NM_194323.2:c.3073C>T | NP_919304.1:p.Arg1025Cys | |
| XM_005264644.2:c.5359C>T | XP_005264701.1:p.Arg1787Cys | |
| XM_011533185.1:c.5419C>T | XP_011531487.1:p.Arg1807Cys | |
| XM_017005338.1:c.5314C>T | XP_016860827.1:p.Arg1772Cys | |
| NM_001287489.2:c.5374C>T | NP_001274418.1:p.Arg1792Cys | |
| NM_004802.4:c.3073C>T | NP_004793.2:p.Arg1025Cys | |
| NM_194248.3:c.5374C>T MANE Select | NP_919224.1:p.Arg1792Cys | |
| NM_194322.3:c.3304C>T | NP_919303.1:p.Arg1102Cys | |
| NM_194323.3:c.3073C>T MANE Plus Clinical | NP_919304.1:p.Arg1025Cys |