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     
+/+ 6 c.1692_1696delAGTGG - r.(1692_1696delagugg) p.(Val565Leufs*3) g.136574922_136574926delCCACT g.135817352_135817356delCCACT c.1692-1696delAGTGG: V565fsX567 - LCT_000003 1 Finnish patient (com-het) with lactase deficiency, congenital PubMed: Torniainen et al. 2009 - - SUMMARY record yes 0/98 FIN CON - - - Anne Polvi
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