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     
+/+ 2 c.98_99insT r.(?) p.(Arg34Thrfs*41) - - pathogenic g.216595580_216595581insA g.216422238_216422239insA - - USH2A_000004 Heterozygous PubMed: Dai 2008 - - Germline - 0/200 controls - 0 - Anne-Françoise Roux
+/+ 2 c.98_99insT r.(?) p.(Arg34Thrfs*41) - - pathogenic g.216595580_216595581insA g.216422238_216422239insA - - USH2A_000004 Heterozygous PubMed: Dai 2008 - - Germline - 0/200 controls - 0 - Anne-Françoise Roux
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