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     
+?/+? 4 c.804G>C - r.(804g>c) p.(Gln268His) g.136587163C>G g.135829593C>G c.804G>C: Q268H - LCT_000002 1 Finnish family (com-het) with lactase deficiency, congenital PubMed: Kuokkanen et al. 2006 - rs121908937 SUMMARY record yes 0/556 FIN CON - - - Anne Polvi
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