rs1876083246
This variant is located in the HNF1A gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Genetic epidemiology of MODY in the Czech republic: new mutations in the MODY genes HNF-4α, GCK and HNF-1αAssociationN=263Pruhova S. et al.(2003)· Diabetologia
Genetic screening of 61 Czech MODY families identified 20 mutations in HNF-4α, GCK, and HNF-1α genes in 48% of families (5% MODY1, 31% MODY2, 11.5% MODY3 prevalence). Seventy percent of identified mutations were novel, including Arg125Trp and Val121Ile in HNF-4α, Glu40Lys and Gly44Asp in GCK, and Arg200Gly in HNF-1α, suggesting that most MODY mutations in this Central European population are local variants.
About HNF1A
The protein encoded by this gene is a transcription factor required for the expression of several liver-specific genes. The encoded protein functions as a homodimer and binds to the inverted palindrome 5'-GTTAATNATTAAC-3'. Defects in this gene are a cause of maturity onset diabetes of the young type 3 (MODY3) and also can result in the appearance of hepatic adenomas. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
View all HNF1A variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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