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.
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     
+?/. - c.497A>G r.(?) p.(Glu166Gly) - ACMG likely pathogenic g.216592010T>C g.216418668T>C - - USH2A_001712 - PubMed: Karali 2019, Journal: Karali 2019 - - Germline - - - 0 - Sandro Banfi
+/. - c.497A>G r.(?) p.(Glu166Gly) - - pathogenic (recessive) g.216592010T>C g.216418668T>C - - USH2A_001712 - PubMed: Karali 2019, Journal: Karali 2019 - - Germline - - - 0 - Sandro Banfi
Legend   How to query