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.

3 entries on 1 page. Showing entries 1 - 3.
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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 c.143T>C pathogenic r.(?) p.(Leu48Pro) Ankyrin repeat 1 (31-60) g.72919026A>G - - - USH1G_000003 heterozygous, {USMAUSH1G:L48P} {MSV3dQ495M9:p.Leu48Pro} PubMed: Weil et al., 2003 - rs104894651 Germline - 0/160 controls - 0 - Anne-Françoise Roux
+/+ 1 c.143T>C pathogenic r.(?) p.(Leu48Pro) Ankyrin repeat 1 (31-60) g.72919026A>G - - - USH1G_000003 heterozygous, {USMAUSH1G:L48P} {MSV3dQ495M9:p.Leu48Pro} PubMed: Weil et al., 2003 - rs104894651 Germline - 0/160 controls - 0 - Anne-Françoise Roux
+/+ 1 c.143T>C pathogenic r.(?) p.(Leu48Pro) Ankyrin repeat 1 (31-60) g.72919026A>G - - - USH1G_000003 heterozygous, {USMAUSH1G:L48P} {MSV3dQ495M9:p.Leu48Pro} PubMed: Krawitz et al., 2014 - rs104894651 Germline - - - 0 - Peter Krawitz
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