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.

3 entries on 1 page. Showing entries 1 - 3.
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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     
+?/. 3i c.652-2A>G r.spl p.? - - likely pathogenic g.216538429T>C g.216365087T>C - - USH2A_000860 - PubMed: de Castro-Miró 2014 - - Germline - - - 0 - Marta de Castro-Miró
+/+ 03i c.652-2A>G r.spl p.? - - pathogenic g.216538429T>C g.216365087T>C - - USH2A_000860 Heterozygous; mutation PubMed: de Castro-Miro 2014 - - Germline - - - 0 - Anne-Françoise Roux
+/+ 03i c.652-2A>G r.spl p.? - - pathogenic g.216538429T>C g.216365087T>C - - USH2A_000860 Heterozygous; mutation PubMed: de Castro-Miro 2014 - - Germline - - - 0 - Anne-Françoise Roux
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