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.
Legend  

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     
+/? 1 c.46C>G UV3 (ACMG: 3) r.(?) p.(Leu16Val) - g.72919123G>C - - - USH1G_000010 heterozygous, {USMAUSH1G:L16V} {MSV3dQ495M9:p.Leu16Val} PubMed: Bonnet et al., 2011 - - Germline - 0/666 controls +MnlI;+PpuMI;+Sau96I;-BanII;-AluI;-CviKI_1; 0 - Anne-Françoise Roux
Legend