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.4834G>T - r.(4834g>u) p.(Glu1612*) g.136558209C>A g.135800639C>A c.4834G>T (E1612X) - LCT_000009 1 Italian family (com-het) with lactase deficiency, congenital PubMed: Torniainen et al. 2009 - - SUMMARY record yes 0/101 ITA CON - - - Anne Polvi
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