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.1152C>T UV1 (ACMG: 2) r.(?) p.(=) Central (127-384) g.72915779G>A - - - USH1G_000019 Heterozygous PubMed: Le Quesne Stabej et al., 2012 - - Germline - 0/878 controls +AlwI;+BstYI;+Sau3AI;-BssKI;-StyD4I;-BstNI; 0 - Maria Bitner-Glindzicz
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