Annotation Detail

Information
Associated Genes
LCT MCM6
Associated Variants
MCM6 c.1917+326C>T ( ENST00000264156.3 )
MCM6 c.1917+326C>T ( ENST00000264156.3 )
Associated Disease
Lactase persistence
Source Database
ClinVar
Description
NM_002299.2(LCT):c.-13907C>T AND Lactase persistence
ClinVar Allele ID
22724
ClinVar RefSeq Alternation Syntax
NM_005915.6:c.1917+326C>T
Clinical Significance Description
association
Clinical Significance Last Update
2021-01-26
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000008124
ClinVar Disease
Lactase persistence
Observed Origin Sample
germline
Observed Origin Sample
unknown
Pubmed
11788828
Pubmed
12915462
Pubmed
15106124
Pubmed
15114531
Pubmed
16041375
Drugs