ClinGen Classification:
Classification
Uncertain Significance
Condition
Usher syndrome
VCEP
Hearing Loss VCEP
ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00012281 (AFR)
Genomes Max Group AF
0.00013042 (AFR)
Exomes Max Group AF
0.00005849 (AFR)
Revel Score:
ENST00000307340 (MANE Select)
0.338
ENST00000366943
0.338
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215674694A>G , CM000663.2:g.215674694A>G | GRCh38 |
| NC_000001.10:g.215848036A>G , CM000663.1:g.215848036A>G | GRCh37 |
| NC_000001.9:g.213914659A>G | NCBI36 |
| NG_009497.1:g.753703T>C | |
| NG_009497.2:g.753755T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.13217T>C MANE Select | ENSP00000305941.3:p.Leu4406Pro | |
| ENST00000674083.1:c.13217T>C | ENSP00000501296.1:p.Leu4406Pro | |
| ENST00000307340.7:c.13217T>C | ENSP00000305941.3:p.Leu4406Pro | |
| NM_206933.2:c.13217T>C | NP_996816.2:p.Leu4406Pro | |
| NM_206933.3:c.13217T>C | NP_996816.2:p.Leu4406Pro | |
| NM_206933.4:c.13217T>C MANE Select | NP_996816.3:p.Leu4406Pro |