rs146175795

This is a variant in the GCKR gene that changes a valine to an methionine.

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ClinVar annotation

Pathogenic★☆☆☆

5 submitters3 publications

Fasting plasma glucose level quantitative trait locus 5 (FGQTL5); Hypertriglyceridemia; not specified

About GCKR

This gene encodes a protein belonging to the GCKR subfamily of the SIS (Sugar ISomerase) family of proteins. The gene product is a regulatory protein that inhibits glucokinase in liver and pancreatic islet cells by binding non-covalently to form an inactive complex with the enzyme. This gene is considered a susceptibility gene candidate for a form of maturity-onset diabetes of the young (MODY). [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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