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.

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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.188G>A r.(?) p.(Arg63Gln) - ACMG likely benign g.216595491C>T g.216422149C>T - - USH2A_000791 Heterozygous; Mutation PubMed: Yang 2013, USMA missense analysis, missense variant in MSV3d - - Germline - 0/400 controls - 0 - Anne-Françoise Roux
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