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.

4 entries on 1 page. Showing entries 1 - 4.
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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     
+/+ 1_1i c.163_164+13del pathogenic r.spl p.? - g.72918992_72919006del - - - USH1G_000008 homozygous PubMed: Bashir et al., 2010 - - Germline - 0/200 controls - 0 - Anne-Françoise Roux
+/+ 1_1i c.163_164+13del pathogenic r.spl p.? - g.72918992_72919006del - - - USH1G_000008 homozygous PubMed: Bashir et al., 2010 - - Germline - 0/200 controls - 0 - Anne-Françoise Roux
+/+ 1_1i c.163_164+13del pathogenic r.spl p.? - g.72918992_72919006del - - - USH1G_000008 homozygous PubMed: Bashir et al., 2010 - - Germline - 0/200 controls - 0 - Anne-Françoise Roux
+/+ 1_1i c.163_164+13del pathogenic r.spl p.? - g.72918992_72919006del - - - USH1G_000008 homozygous PubMed: Bashir et al., 2010 - - Germline - 0/200 controls - 0 - Anne-Françoise Roux
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