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.377_378del r.(?) p.(Ser126Ilefs*31) - - pathogenic g.216595301_216595302del g.216421959_216421960del 377_378delGT - USH2A_000193 Heterozygous PubMed: Najera 2002 - - Germline - - - 0 - Jose Maria Millan
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