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     
+?/+? 16 c.5387delA - r.(5387dela) p.(Asp1796Alafs*18) g.136547317delT g.135789747delT c.5387delA (p.D1796fs) - LCT_000011 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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