GDF1

growth differentiation factor 1

Summary

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. Studies in rodents suggest that this protein is involved in the establishment of left-right asymmetry in early embryogenesis and in neural development in later embryogenesis. The encoded protein is translated from a bicistronic mRNA that also encodes ceramide synthase 1. Mutations in this gene are associated with several congenital cardiovascular malformations. [provided by RefSeq, Jul 2016]

Known Variants138 total

rsidPosition (GRCh37)AllelesClassClinVar
rs121325254419:18,979,421C/T—likely benign
rs36980428019:18,979,423C/T—uncertain significance
rs251295171119:18,979,429C/A—uncertain significance
rs251295172119:18,979,430C/T—likely benign
rs75364381919:18,979,433——pathogenic
rs214598385919:18,979,433C/T—likely pathogenic
rs37401670419:18,979,434A/Gmissense variantpathogenic
rs132471928919:18,979,450G/A—uncertain significance
rs251295197019:18,979,482A/G—uncertain significance
rs146701654419:18,979,484C/A—likely benign
rs126773684219:18,979,487G/A—likely benign
rs94502523719:18,979,490G/A—likely benign
rs77949255819:18,979,495G/A—uncertain significance
rs74880831319:18,979,496C/T—likely benign
rs205589893119:18,979,497G/C—uncertain significance
rs53752464919:18,979,506G/C—uncertain significance
rs214598429219:18,979,509G/T—uncertain significance
rs251295217419:18,979,524A/C—uncertain significance
rs142911076719:18,979,528C/T—uncertain significance
rs77327164819:18,979,538C/T—likely benign
rs76090870619:18,979,540G/A—uncertain significance
rs251295230119:18,979,548G/C—uncertain significance
rs106479313819:18,979,573C/Tmissense variantpathogenic
rs130655546819:18,979,587G/A—uncertain significance
rs156828955419:18,979,591G/C—uncertain significance
rs127759241419:18,979,598G/A—likely benign
rs86462251319:18,979,600A/G—conflicting classifications of pathogenicity
rs55158837819:18,979,613G/C—likely benign
rs214598493119:18,979,622C/T—likely benign
rs102631229619:18,979,625G/A—likely benign
rs89055883619:18,979,634C/G—uncertain significance
rs146660462319:18,979,636G/A—pathogenic
rs155570223319:18,979,642A/T—uncertain significance
rs139456158219:18,979,647G/A—uncertain significance
rs205590391819:18,979,661C/T—likely benign
rs120007257819:18,979,676G/C—likely benign
rs76730351619:18,979,691C/T—likely benign
rs135508823419:18,979,695C/T—uncertain significance
rs205590519919:18,979,713C/G—uncertain significance
rs117396906119:18,979,714G/A—uncertain significance
rs12143442319:18,979,725C/Tmissense variantpathogenic
rs75570766619:18,979,729C/T—uncertain significance
rs155570226619:18,979,737G/A—uncertain significance
rs88604220219:18,979,745G/A—uncertain significance
rs205590669619:18,979,753C/T—uncertain significance
rs53371141919:18,979,758T/C—uncertain significance
rs127358639519:18,979,760G/T—likely benign
rs251295326919:18,979,764T/G—uncertain significance
rs251295328619:18,979,768G/A—uncertain significance
rs205590761519:18,979,784G/A—likely benign
rs205590770819:18,979,787G/A—likely benign
rs205590846619:18,979,839C/G—uncertain significance
rs12143442219:18,979,844G/Tstop gainedpathogenic
rs94889816219:18,979,860C/T—uncertain significance
rs137486866119:18,979,864G/C—uncertain significance
rs103782722019:18,979,867G/T—uncertain significance
rs89946495219:18,979,872G/T—uncertain significance
rs205590984019:18,979,876G/C—uncertain significance
rs104822117319:18,979,888G/A—uncertain significance
rs100928963619:18,979,899C/T—pathogenic
rs135932151819:18,979,917C/T—pathogenic
rs57355910419:18,979,926C/T—uncertain significance
rs86802662919:18,979,929A/G—uncertain significance
rs90055325319:18,979,938G/C—uncertain significance
rs251295389819:18,979,939C/T—uncertain significance
rs146769136519:18,979,943C/T—likely benign
rs102213244519:18,979,950G/A—uncertain significance
rs119444399819:18,979,953C/G—uncertain significance
rs122795284619:18,979,964C/T—likely benign
rs96664820719:18,979,976G/A—likely benign
rs123237866519:18,979,979C/A—likely benign
rs106050478119:18,979,988C/T—likely benign
rs123620220919:18,980,008C/T—uncertain significance
rs12143442419:18,980,040C/Tmissense variantpathogenic
rs142139686719:18,980,049G/A—uncertain significance
rs137426484319:18,980,057C/T—likely benign
rs128558963119:18,980,060C/T—likely benign
rs130554808719:18,980,067G/A—uncertain significance
rs74734512119:18,980,088C/T—uncertain significance
rs77127678619:18,980,094C/G—uncertain significance
rs205591609119:18,980,107C/G—uncertain significance
rs137819558119:18,980,109G/A—uncertain significance
rs76544921219:18,980,113G/T—conflicting classifications of pathogenicity
rs94473035619:18,980,121G/A—conflicting classifications of pathogenicity
rs106479313619:18,980,124G/Cmissense variantpathogenic
rs18191887119:18,980,137C/T—benign
rs90062543719:18,980,145C/T—likely pathogenic
rs75596790219:18,980,153G/A—likely benign
rs105752470719:18,980,154C/Amissense variantpathogenic
rs76600313519:18,980,158G/A—uncertain significance
rs145892471919:18,980,159C/T—likely benign
rs75887868719:18,980,168C/T—likely benign
rs140297666419:18,980,169G/A—uncertain significance
rs77821366619:18,980,171G/A—likely benign
rs480886319:18,980,172G/A—likely benign
rs77147531619:18,980,180C/T—likely benign
rs74604874119:18,980,184G/A—uncertain significance
rs77307935419:18,980,195C/A—likely benign
rs76620202619:18,980,196G/T—uncertain significance
rs57821902519:18,980,207G/A—benign

Showing 100 of 138 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.