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.780_781insGCAC pathogenic r.(?) p.(Tyr261Alafs*96) Central (127-384) g.72916150_72916151insGTGC - 780insGCAC - USH1G_000029 Heterozygous PubMed: Oonk et al., 2014 - - Germline - 0/350 controls - 0 - Anne-Françoise Roux
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