ClinGen Evidence Repository:
Classification
Pathogenic
Condition
nonsyndromic genetic deafness
VCEP
Hearing Loss VCEP
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00008153 (AFR)
Genomes Max Group AF
0.00006282 (AFR)
Exomes Max Group AF
0.00005849 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26479356G>A , CM000664.2:g.26479356G>A | GRCh38 |
| NC_000002.11:g.26702224G>A , CM000664.1:g.26702224G>A | GRCh37 |
| NC_000002.10:g.26555728G>A | NCBI36 |
| NG_009937.1:g.84343C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272371.7:c.2122C>T MANE Select | ENSP00000272371.2:p.Arg708Ter | |
| ENST00000272371.6:c.2122C>T | ENSP00000272371.2:p.Arg708Ter | |
| ENST00000403946.7:c.2122C>T | ENSP00000385255.3:p.Arg708Ter | |
| NM_001287489.1:c.2122C>T | NP_001274418.1:p.Arg708Ter | |
| NM_194248.2:c.2122C>T | NP_919224.1:p.Arg708Ter | |
| XM_005264644.2:c.2167C>T | XP_005264701.1:p.Arg723Ter | |
| XM_011533185.1:c.2167C>T | XP_011531487.1:p.Arg723Ter | |
| XM_017005338.1:c.2122C>T | XP_016860827.1:p.Arg708Ter | |
| NM_001287489.2:c.2122C>T | NP_001274418.1:p.Arg708Ter | |
| NM_194248.3:c.2122C>T MANE Select | NP_919224.1:p.Arg708Ter |