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     
+/+ 2 c.653_654del - r.(653_654del) p.(Ser218Cysfs*6) g.136590747_136590748del g.135833177_135833178del c.653_654delCT:S218fsX224 - LCT_000001 1 Finnish family (com-het) with lactase deficiency, congenital PubMed: Kuokkanen et al. 2006 - - SUMMARY record yes 0/556 FIN CON - - - Anne Polvi
Legend