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.

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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.800G>A pathogenic r.(?) p.(Trp267*) Central (127-384) g.72916131C>T - - - USH1G_000057 Heterozygous PubMed: Bonnet et al., 2016 - - Germline - - - 0 - Crystel Bonnet
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