ClinGen Evidence Repository:
Classification
Uncertain Significance
Condition
Usher syndrome
VCEP
Hearing Loss VCEP
Revel Score:
ENST00000398860
0.783
ENST00000398855
0.783
ENST00000224721 (MANE Select)
0.783
ENST00000398788
0.783
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000443 (AFR)
Genomes Max Group AF
0.00000799 (AFR)
Exomes Max Group AF
0.00000194 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71812822C>T , CM000672.2:g.71812822C>T | GRCh38 |
| NC_000010.10:g.73572579C>T , CM000672.1:g.73572579C>T | GRCh37 |
| NC_000010.9:g.73242585C>T | NCBI36 |
| NG_008835.1:g.420876C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.9565C>T MANE Select | ENSP00000224721.9:p.Arg3189Trp | |
| ENST00000642965.1:c.3498C>T | ENSP00000495222.1:n.3498C>T | |
| ENST00000647092.1:c.3162C>T | ENSP00000495176.1:n.3162C>T | |
| ENST00000224721.10:c.9580C>T | ENSP00000224721.8:p.Arg3194Trp | |
| ENST00000398788.4:c.2845C>T | ENSP00000381768.3:p.Arg949Trp | |
| ENST00000475158.1:n.3101C>T | ||
| ENST00000619887.4:c.2845C>T | ENSP00000478374.1:p.Arg949Trp | |
| ENST00000622827.4:c.9565C>T | ENSP00000483211.1:p.Arg3189Trp | |
| NM_001171933.1:c.2845C>T | NP_001165404.1:p.Arg949Trp | |
| NM_001171934.1:c.2845C>T | NP_001165405.1:p.Arg949Trp | |
| NM_001171935.1:c.256C>T | NP_001165406.1:p.Arg86Trp | |
| NM_001171936.1:c.256C>T | NP_001165407.1:p.Arg86Trp | |
| NM_022124.5:c.9565C>T | NP_071407.4:p.Arg3189Trp | |
| XM_006717940.2:c.9760C>T | XP_006718003.1:p.Arg3254Trp | |
| XM_006717942.2:c.9694C>T | XP_006718005.1:p.Arg3232Trp | |
| XM_011540039.1:c.9757C>T | XP_011538341.1:p.Arg3253Trp | |
| XM_011540040.1:c.9754C>T | XP_011538342.1:p.Arg3252Trp | |
| XM_011540041.1:c.9700C>T | XP_011538343.1:p.Arg3234Trp | |
| XM_011540042.1:c.9670C>T | XP_011538344.1:p.Arg3224Trp | |
| XM_011540043.1:c.9760C>T | XP_011538345.1:p.Arg3254Trp | |
| XM_011540044.1:c.9625C>T | XP_011538346.1:p.Arg3209Trp | |
| XM_011540045.1:c.9760C>T | XP_011538347.1:p.Arg3254Trp | |
| XM_011540046.1:c.9220C>T | XP_011538348.1:p.Arg3074Trp | |
| XM_011540047.1:c.8578C>T | XP_011538349.1:p.Arg2860Trp | |
| XM_011540052.1:c.6088C>T | XP_011538354.1:p.Arg2030Trp | |
| NM_022124.6:c.9565C>T MANE Select | NP_071407.4:p.Arg3189Trp |