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.

2 entries on 1 page. Showing entries 1 - 2.
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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     
+/. 2 c.377del r.(?) p.(Ser126Ilefs*19) - - pathogenic (recessive) g.216595302del g.216421960del 377delG - USH2A_001450 - PubMed: Sharon 2015, PubMed: Beryozkin 2015, PubMed: Sharon 2019 - - Germline - - - 0 - Dror Sharon
+/. - c.377del r.(?) p.(Ser126Ilefs*19) - ACMG pathogenic g.216595302del - c.377delG - USH2A_001450 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - 0 - Global Variome, with Curator vacancy
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