All variants in the USH2A gene


This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Information The variants shown are described using the NM_206933.2 transcript reference sequence.

1 entry on 1 page. Showing entry 1.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/+ 3 c.545_546del r.(?) p.(Lys182Argfs*33) - - pathogenic g.216591962_216591963del g.216418620_216418621del 545_546delAA - USH2A_000208 Heterozygous PubMed: Seyedahmadi 2004 - - Germline - - - 0 - Anne-Françoise Roux
Legend   How to query