MGP

matrix Gla protein

Summary

This gene encodes a member of the osteocalcin/matrix Gla family of proteins. The encoded vitamin K-dependent protein is secreted by chondrocytes and vascular smooth muscle cells, and functions as a physiological inhibitor of ectopic tissue calcification. Carboxylation status of the encoded protein is associated with calcification of the vasculature in human patients with cardiovascular disease and calcification of the synovial membranes in osteoarthritis patients. Mutations in this gene cause Keutel syndrome in human patients, which is characterized by abnormal cartilage calcification, peripheral pulmonary stenosis and facial hypoplasia. [provided by RefSeq, Sep 2016]

Known Variants93 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14277358412:15,034,318C/A—benign
rs103259065712:15,034,353G/T—uncertain significance
rs3418153312:15,034,458T/C—benign
rs11451278512:15,034,469T/C—benign
rs104989712:15,034,521T/A—benign
rs13906932112:15,034,535G/C—likely benign
rs53500880012:15,034,542A/G—uncertain significance
rs18491651712:15,034,597A/G—uncertain significance
rs3511296212:15,034,730C/T—benign
rs15003887912:15,034,734A/G—benign
rs88604910512:15,034,822A/G—uncertain significance
rs14432118712:15,034,867T/C—likely benign
rs93551801412:15,034,897G/C—uncertain significance
rs14880264212:15,034,933A/G—likely benign
rs8033704312:15,035,046A/C—benign
rs77960428712:15,035,075A/G—uncertain significance
rs423612:15,035,081T/Cmissense variantbenign
rs14525425012:15,035,086C/T—likely benign
rs77873716812:15,035,087G/A—uncertain significance
rs36840937912:15,035,089C/T—uncertain significance
rs52761006012:15,035,091C/T—likely benign
rs54699808512:15,035,104C/T—uncertain significance
rs128906301612:15,035,118A/G—likely benign
rs186338421112:15,035,135T/G—uncertain significance
rs14502468312:15,035,139G/A—likely benign
rs37582864612:15,035,143C/G—uncertain significance
rs88604910612:15,035,148G/A—uncertain significance
rs14908424112:15,035,151A/G—conflicting classifications of pathogenicity
rs77748428712:15,035,159A/G—uncertain significance
rs77114129612:15,035,170G/C—uncertain significance
rs18601388012:15,035,178A/G—likely benign
rs76973361212:15,035,179T/C—uncertain significance
rs53904252212:15,035,180T/G—uncertain significance
rs55075449012:15,035,186C/T—uncertain significance
rs15115828112:15,035,187G/A—conflicting classifications of pathogenicity
rs37443420912:15,035,203C/T—uncertain significance
rs53644040712:15,035,209C/T—uncertain significance
rs37545719812:15,035,230A/C—likely benign
rs57317997312:15,035,281A/T—likely benign
rs198558312:15,035,509A/G—benign
rs56042131612:15,035,642A/C—likely benign
rs18196492112:15,035,908C/T—likely benign
rs180171612:15,035,919T/C—likely benign
rs53678167312:15,035,922C/A—uncertain significance
rs249746825912:15,035,937G/C—uncertain significance
rs14521082112:15,035,961T/G—likely benign
rs186339928412:15,035,979G/C—uncertain significance
rs77920016912:15,035,999A/G—likely benign
rs137937181912:15,036,000T/C—likely benign
rs7329898112:15,036,275A/G—likely benign
rs212044053812:15,037,130G/A—likely benign
rs119177323412:15,037,145A/G—likely pathogenic
rs11132075912:15,037,146C/T—pathogenic
rs73088032212:15,037,154A/Tstop gainedpathogenic
rs88604910712:15,037,157A/G—conflicting classifications of pathogenicity
rs75410756612:15,037,164A/G—uncertain significance
rs75530674612:15,037,166G/T—uncertain significance
rs93836805112:15,037,172A/G—likely benign
rs140375501112:15,037,179T/A—uncertain significance
rs11251841312:15,037,181T/A—pathogenic
rs120407004112:15,037,198G/A—likely benign
rs1334319912:15,037,306C/T—likely benign
rs11174542712:15,037,358T/A—likely benign
rs11571780012:15,037,513A/G—likely benign
rs11374858612:15,037,525A/G—likely benign
rs105752018912:15,037,817C/G—uncertain significance
rs7431641812:15,037,835A/G—likely benign
rs7930044512:15,037,927A/G—likely benign
rs7491233912:15,037,962A/G—likely benign
rs11130739812:15,038,467C/A—likely benign
rs11209139312:15,038,513T/C—likely benign
rs11292905612:15,038,518C/T—likely benign
rs75518396712:15,038,645A/G—likely benign
rs14515957012:15,038,649G/A—likely benign
rs14917035412:15,038,655A/C—likely benign
rs155509447312:15,038,670C/T—conflicting classifications of pathogenicity
rs86875085612:15,038,680C/T—uncertain significance
rs13902468012:15,038,684C/T—likely benign
rs212044810712:15,038,685G/A—uncertain significance
rs18453692812:15,038,692C/T—uncertain significance
rs14228200812:15,038,693G/A—likely benign
rs186343256512:15,038,701T/G—uncertain significance
rs14233042912:15,038,703G/A—benign
rs37142984912:15,038,731C/T—likely benign
rs180080112:15,038,788C/Tregulatory region variantbenign
rs15099476212:15,038,791G/T—uncertain significance
rs56971047112:15,038,842G/A—uncertain significance
rs180080212:15,038,919A/Gregulatory region variantbenign
rs11284403112:15,038,966A/C—likely benign
rs11125522812:15,038,970G/C—likely benign
rs7656712912:15,038,986T/C—likely benign
rs11284841012:15,039,075A/G—likely benign
rs180079912:15,039,295G/Aregulatory region variant—

Gene information from NCBI Gene. Variant classifications from ClinVar.