All transcript variants in gene USH1G


This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Information The variants shown are described using the NM_173477.2 transcript reference sequence.

1 entry on 1 page. Showing entry 1.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     

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.206_207insC pathogenic r.(?) p.(His70Alafs*65) Ankyrin repeat 2 (64-93) g.72916724_72916725insG - - - USH1G_000026 homozygous PubMed: Rizel et al., 2012 - - Germline - 0/98 controls +MnlI;-BslI;-HpyCH4V; 0 - Anne-Françoise Roux
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