ClinGen Evidence Repository:
Classification
Benign
Condition
nonsyndromic genetic deafness
VCEP
Hearing Loss VCEP
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00896751 (AFR)
Genomes Max Group AF
0.00893529 (AFR)
Exomes Max Group AF
0.0084829 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26481015G>A , CM000664.2:g.26481015G>A | GRCh38 |
| NC_000002.11:g.26703883G>A , CM000664.1:g.26703883G>A | GRCh37 |
| NC_000002.10:g.26557387G>A | NCBI36 |
| NG_009937.1:g.82684C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272371.7:c.1580-6C>T MANE Select | ENSP00000272371.2:n.1580-6C>T | |
| ENST00000272371.6:c.1580-6C>T | ENSP00000272371.2:n.1580-6C>T | |
| ENST00000403946.7:c.1580-6C>T | ENSP00000385255.3:n.1580-6C>T | |
| NM_001287489.1:c.1580-6C>T | NP_001274418.1:n.1580-6C>T | |
| NM_194248.2:c.1580-6C>T | NP_919224.1:n.1580-6C>T | |
| XM_005264644.2:c.1625-6C>T | XP_005264701.1:n.1625-6C>T | |
| XM_011533185.1:c.1625-6C>T | XP_011531487.1:n.1625-6C>T | |
| XM_017005338.1:c.1580-6C>T | XP_016860827.1:n.1580-6C>T | |
| NM_001287489.2:c.1580-6C>T | NP_001274418.1:n.1580-6C>T | |
| NM_194248.3:c.1580-6C>T MANE Select | NP_919224.1:n.1580-6C>T |