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.

3 entries on 1 page. Showing entries 1 - 3.
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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     
+?/. 4 c.754G>T r.(?) p.(Gly252Cys) - - likely pathogenic g.216538325C>A g.216364983C>A - - USH2A_001449 - Sharon, submitted - - Germline - - - 0 - Dror Sharon
+?/. - c.754G>T r.(?) p.(Gly252Cys) - ACMG likely pathogenic g.216538325C>A - - - USH2A_001449 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - 0 - Global Variome, with Curator vacancy
+/. - c.754G>T r.(?) p.(Gly252Cys) - - pathogenic g.216538325C>A g.216364983C>A - - USH2A_001449 - PubMed: Bravo-Gil 2016 - - Germline - - - 0 - -
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