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     
+/+ 9 c.4170T>A - r.(4170u>a) p.(Tyr1390*) g.136564701A>T g.135807131A>T c.4170T>A: Y1390X - LCT_000006 Finnish major mutation (FINMajor) for lactase deficiency, congenital: 26 Finnish families (most hom) with the disease PubMed: Kuokkanen et al. 2006, PubMed: Torniainen et al. 2009 - rs121908936 SUMMARY record yes 4/140 NIL CON - - - Anne Polvi
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