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     
+/. 3 c.545_548delAAGA r.(?) p.(Lys182Argfs*9) - - pathogenic g.216591962_216591965del g.216418620_216418623del c.545_548delAAGA - USH2A_001962 - PubMed: Bernardis 2016 - - Germline - - - 0 - -
+/. 3 c.545_548delAAGA r.(?) p.(Lys182Argfs*9) - - pathogenic g.216591962_216591965del g.216418620_216418623del c.545_548delAAGA - USH2A_001962 - PubMed: Bernardis 2016 - - Germline - - - 0 - -
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