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.

4 entries on 1 page. Showing entries 1 - 4.
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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     
+/+ 4 c.775_776del r.(?) p.(Ser259Phefs*63) - - pathogenic g.216538305_216538306del g.216364963_216364964del 775_776delAG - USH2A_000209 Heterozygous PubMed: Seyedahmadi 2004 - - Germline - - - 0 - Anne-Françoise Roux
+/+ 4 c.775_776del r.(?) p.(Ser259Phefs*63) - - pathogenic g.216538305_216538306del g.216364963_216364964del 775_776delAG - USH2A_000209 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - 0 - Crystel Bonnet
+/. - c.775_776del r.(?) p.(Ser259Phefs*63) - - pathogenic g.216538305_216538306del g.216364963_216364964del 775_776delAG - USH2A_000209 - PubMed: Neuhaus 2017 - - Germline yes - - 0 - -
+/. - c.775_776del r.(?) p.(Ser259Phefs*63) - - pathogenic g.216538305_216538306del g.216364963_216364964del 775_776delAG - USH2A_000209 - PubMed: Neuhaus 2017 - - Germline yes - - 0 - -
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