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.

5 entries on 1 page. Showing entries 1 - 5.
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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     
+/+ 5-1 c.785-6636_1840+208del r.? p.(Leu263_Gly614del) Laminin N-terminal (271-517);Laminin EGF-like 1 (518-574);Laminin EGF-like 2 (575-640) - pathogenic g.216465309_216507632del g.216291967_216334290del - - USH2A_000739 Heterozygous PubMed: Baux 2014 - - Germline - - - 0 - Anne-Françoise Roux
+/+ 5-1 c.785-6636_1840+208del r.? p.? Laminin N-terminal (271-517);Laminin EGF-like 1 (518-574);Laminin EGF-like 2 (575-640) - pathogenic g.216465309_216507632del g.216291967_216334290del - - USH2A_000739 Heterozygous PubMed: Baux 2014 - - Germline - - - 0 - Anne-Françoise Roux
+/+ 5-1 c.785-6636_1840+208del r.? p.(Leu263_Gly614del) Laminin N-terminal (271-517), Laminin EGF-like 1 (518-574), Laminin EGF-like 2 (575-640) - pathogenic g.216465309_216507632del g.216291967_216334290del - - USH2A_000739 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - 0 - Crystel Bonnet
+/+ 5-1 c.785-6636_1840+208del r.? p.(Leu263_Gly614del) Laminin N-terminal (271-517), Laminin EGF-like 1 (518-574), Laminin EGF-like 2 (575-640) - pathogenic g.216465309_216507632del g.216291967_216334290del - - USH2A_000739 Homozygous; mutation PubMed: Bonnet 2016 - - Germline - - - 0 - Crystel Bonnet
+/+ 5-1 c.785-6636_1840+208del r.? p.(Leu263_Gly614del) Laminin N-terminal (271-517), Laminin EGF-like 1 (518-574), Laminin EGF-like 2 (575-640) - pathogenic g.216465309_216507632del g.216291967_216334290del - - USH2A_000739 Homozygous; mutation PubMed: Bonnet 2016 - - Germline - - - 0 - Crystel Bonnet
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