Variant: rs113042313 

    present in Gene: HNF1B;LOC105371754
    present in Chromosome: 17
    Position on Chromosome: 37710601
    Alleles of this Variant: C/T

rs113042313 in HNF1B;LOC105371754 gene and Renal cysts and diabetes syndrome PMID 11845238 2002 Identification of a gain-of-function mutation in the HNF-1beta gene in a Japanese family with MODY.

PMID 10672455 2000 Hepatocyte nuclear factor-1 beta (MODY5) gene mutations in Scandinavian families with early-onset diabetes or kidney disease or both.

PMID 10484768 1999 A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta.

PMID 15001636 2004 Promoter-specific repression of hepatocyte nuclear factor (HNF)-1 beta and HNF-1 alpha transcriptional activity by an HNF-1 beta missense mutant associated with Type 5 maturity-onset diabetes of the young with hepatic and biliary manifestations.

PMID 11918730 2002 Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations.

PMID 14583183 2004 Genetic variants of hepatocyte nuclear factor-1beta in Chinese young-onset diabetic patients with nephropathy.

PMID 15181075 2004 Neonatal diabetes mellitus and neonatal polycystic, dysplastic kidneys: Phenotypically discordant recurrence of a mutation in the hepatocyte nuclear factor-1beta gene due to germline mosaicism.

PMID 15930087 2006 Mutations in hepatocyte nuclear factor-1beta and their related phenotypes.

PMID 15068978 2004 Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations.

PMID 16249435 2005 Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5.