All transcript variants in gene LCT

Information The variants shown are described using the NM_002299.2 transcript reference sequence.

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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
+?/+? 10 c.4419C>G - r.(4419c>g) p.(Tyr1473*) g.136562382G>C g.135804812G>C c.4419C>G (p.Y1473X) - LCT_000007 1 Japanese family (com-het) with probable lactase deficiency, congenital PubMed: Uchida et al. 2012 - - SUMMARY record yes - - 0 - Anne Polvi
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