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     
+/+ 4 c.779T>G r.(?) p.(Leu260*) - - pathogenic g.216538300A>C g.216364958A>C - - USH2A_000167 Heterozygous PubMed: Weston 2000 - rs121912598 Germline - - -DraI;-MseI; 0 - Anne-Françoise Roux
+/+ 4 c.779T>G r.(?) p.(Leu260*) - - pathogenic g.216538300A>C g.216364958A>C - - USH2A_000167 Heterozygous; Pathogenic PubMed: Malm 2010 - rs121912598 Germline - - -DraI;-MseI; 0 - Anne-Françoise Roux
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