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     
+?/+? 12 c.4760G>A - r.(4760g>a) p.(Arg1587His) g.136558283C>T g.135800713C>T c.4760G>A (R1587H) - LCT_000008 1 Finnish patient (com-het) with lactase deficiency, congenital PubMed: Torniainen et al. 2009 - rs146614143 SUMMARY record yes 0/98 FIN CON - - - Anne Polvi
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