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.

2 entries on 1 page. Showing entries 1 - 2.
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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     
-/-? 3 c.*1163_*1164del UV1 (ACMG: 2) r.(=) p.(=) - g.72913004_72913005del - *1163_*1164delTG - USH1G_000020 Heterozygous PubMed: Le Quesne Stabej et al., 2012 - - Germline - 0/96 controls none 0 - Maria Bitner-Glindzicz
-/-? 3 c.*1163_*1164del UV1 (ACMG: 2) r.(=) p.(=) - g.72913004_72913005del - *1163_*1164delTG - USH1G_000020 Heterozygous PubMed: Le Quesne Stabej et al., 2012 - - Germline - 0/96 controls none 0 - Maria Bitner-Glindzicz
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