All transcript variants in gene LCT

Information The variants shown are described using the NM_002299.2 transcript reference sequence.

1 entry on 1 page. Showing entry 1.
Legend  

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     
+?/+? 8 c.2062T>C - r.(2062u>c) p.(Ser688Pro) g.136570172A>G g.135812602A>G c.2062T>C (S688P) - LCT_000004 1 Italian family (com-het) with lactase deficiency, congenital PubMed: Torniainen et al. 2009 - rs76854071 SUMMARY record yes 0/101 ITA CON - - - Anne Polvi
Legend