ClinGen Evidence Repository:
Classification
Likely Benign
Condition
nonsyndromic genetic deafness
VCEP
Hearing Loss VCEP
Revel Score:
ENST00000428345
0.159
ENST00000369981
0.159
ENST00000369985
0.159
ENST00000369977 (MANE Select)
0.159
ENST00000369975
0.159
ENST00000430435
0.159
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00107555 (SAS)
Genomes Max Group AF
0.00112622 (SAS)
Exomes Max Group AF
0.0010282 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75890234C>T , CM000668.2:g.75890234C>T | GRCh38 |
| NC_000006.11:g.76599951C>T , CM000668.1:g.76599951C>T | GRCh37 |
| NC_000006.10:g.76656671C>T | NCBI36 |
| NG_009934.1:g.146043C>T | |
| NG_009934.2:g.146042C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369975.6:c.2836C>T | ENSP00000358992.1:p.Arg946Cys | |
| ENST00000369977.8:c.2836C>T MANE Select | ENSP00000358994.3:p.Arg946Cys | |
| ENST00000369985.9:c.2836C>T | ENSP00000359002.3:p.Arg946Cys | |
| ENST00000627432.3:c.2845C>T | ENSP00000487348.2:p.Arg949Cys | |
| ENST00000664640.1:c.2836C>T | ENSP00000499278.1:p.Arg946Cys | |
| ENST00000671923.1:c.*943C>T | ENSP00000500835.1:n.*943C>T | |
| ENST00000672093.1:c.2836C>T | ENSP00000500710.1:p.Arg946Cys | |
| ENST00000369975.5:c.2836C>T | ENSP00000358992.1:p.Arg946Cys | |
| ENST00000369977.7:c.2836C>T | ENSP00000358994.3:p.Arg946Cys | |
| ENST00000369981.7:c.2836C>T | ENSP00000358998.4:p.Arg946Cys | |
| ENST00000369985.8:c.2836C>T | ENSP00000359002.3:p.Arg946Cys | |
| ENST00000430435.1:c.25C>T | ENSP00000399406.1:p.Arg9Cys | |
| ENST00000615563.4:c.2836C>T | ENSP00000478013.1:p.Arg946Cys | |
| ENST00000627432.2:c.2836C>T | ENSP00000487348.1:p.Arg946Cys | |
| NM_001300899.1:c.2836C>T | NP_001287828.1:p.Arg946Cys | |
| NM_004999.3:c.2836C>T | NP_004990.3:p.Arg946Cys | |
| XM_005248719.2:c.2836C>T | XP_005248776.1:p.Arg946Cys | |
| XM_005248720.2:c.2836C>T | XP_005248777.1:p.Arg946Cys | |
| XM_005248721.2:c.2836C>T | XP_005248778.1:p.Arg946Cys | |
| XM_005248722.2:c.2836C>T | XP_005248779.1:p.Arg946Cys | |
| XM_005248724.2:c.2836C>T | XP_005248781.1:p.Arg946Cys | |
| XM_005248726.2:c.2836C>T | XP_005248783.1:p.Arg946Cys | |
| XM_005248719.4:c.2836C>T | XP_005248776.1:p.Arg946Cys | |
| XM_005248720.4:c.2836C>T | XP_005248777.1:p.Arg946Cys | |
| XM_005248721.4:c.2836C>T | XP_005248778.1:p.Arg946Cys | |
| XM_005248722.4:c.2836C>T | XP_005248779.1:p.Arg946Cys | |
| XM_005248724.4:c.2836C>T | XP_005248781.1:p.Arg946Cys | |
| XM_005248726.4:c.2836C>T | XP_005248783.1:p.Arg946Cys | |
| XM_017010899.2:c.2836C>T | XP_016866388.1:p.Arg946Cys | |
| XM_024446447.1:c.2836C>T | XP_024302215.1:p.Arg946Cys | |
| XM_024446448.1:c.2836C>T | XP_024302216.1:p.Arg946Cys | |
| NM_004999.4:c.2836C>T MANE Select | NP_004990.3:p.Arg946Cys | |
| NM_001300899.2:c.2836C>T | NP_001287828.1:p.Arg946Cys | |
| NM_001368136.1:c.2836C>T | NP_001355065.1:p.Arg946Cys | |
| NM_001368137.1:c.2836C>T | NP_001355066.1:p.Arg946Cys | |
| NM_001368138.1:c.2821C>T | NP_001355067.1:p.Arg941Cys | |
| NM_001368865.1:c.2836C>T | NP_001355794.1:p.Arg946Cys | |
| NM_001368866.1:c.2836C>T | NP_001355795.1:p.Arg946Cys | |
| NR_160538.1:n.3161C>T |