GH1

growth hormone 1

Summary

The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones which play an important role in growth control. The gene, along with four other related genes, is located at the growth hormone locus on chromosome 17 where they are interspersed in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. The five genes share a remarkably high degree of sequence identity. Alternative splicing generates additional isoforms of each of the five growth hormones, leading to further diversity and potential for specialization. This particular family member is expressed in the pituitary but not in placental tissue as is the case for the other four genes in the growth hormone locus. Mutations in or deletions of the gene lead to growth hormone deficiency and short stature. [provided by RefSeq, Jul 2008]

Known Variants134 total

rsidPosition (GRCh37)AllelesClassClinVar
rs136609719617:61,994,684G/A—likely benign
rs13785322317:61,994,697C/Tmissense variantpathogenic
rs14847499117:61,994,708G/C—uncertain significance
rs14270476817:61,994,726G/C—conflicting classifications of pathogenicity
rs190738562117:61,994,735C/T—uncertain significance
rs75981390517:61,994,760A/G—uncertain significance
rs190738813817:61,994,762C/T—uncertain significance
rs20040910217:61,994,764C/T—uncertain significance
rs18464037217:61,994,776G/A—uncertain significance
rs408007817:61,994,777T/C—conflicting classifications of pathogenicity
rs15124353817:61,994,788C/G—uncertain significance
rs250924819517:61,994,792G/A—likely benign
rs78094151317:61,994,806C/G—uncertain significance
rs408007517:61,994,807G/A—likely benign
rs117553527717:61,994,813G/C—uncertain significance
rs77128006117:61,994,821T/A—uncertain significance
rs13888024417:61,994,830A/G—uncertain significance
rs37760094417:61,994,845G/A—uncertain significance
rs105281973517:61,994,849G/A—likely benign
rs190740194017:61,994,850C/A—uncertain significance
rs20116577717:61,994,853C/T—uncertain significance
rs20184938817:61,994,855A/G—conflicting classifications of pathogenicity
rs77033676617:61,994,857C/A—uncertain significance
rs190740466817:61,994,866T/C—uncertain significance
rs266580217:61,995,030A/Tintron variantbenign
rs6173535117:61,995,101C/A—likely benign
rs11783974017:61,995,102C/A—benign
rs36988872317:61,995,104C/T—likely benign
rs6176249817:61,995,108C/T—conflicting classifications of pathogenicity
rs86322330817:61,995,115C/G—pathogenic
rs79704444917:61,995,119C/G—pathogenic
rs75343148817:61,995,122C/A—uncertain significance
rs118005471217:61,995,124A/G—uncertain significance
rs11337931017:61,995,126C/G—likely benign
rs4129504317:61,995,129C/T—likely benign
rs76858599517:61,995,150G/C—uncertain significance
rs190743631117:61,995,162G/T—uncertain significance
rs13785322117:61,995,163T/Cmissense variantpathogenic
rs143895637717:61,995,166T/C—uncertain significance
rs538817:61,995,170C/T—conflicting classifications of pathogenicity
rs250924991217:61,995,177G/T—uncertain significance
rs37078560317:61,995,189G/A—conflicting classifications of pathogenicity
rs75514141517:61,995,197G/A—likely benign
rs37395875817:61,995,206C/T—uncertain significance
rs13788237417:61,995,213A/G—conflicting classifications of pathogenicity
rs36865874417:61,995,217C/T—uncertain significance
rs37277629117:61,995,224A/G—uncertain significance
rs14239603517:61,995,226T/C—uncertain significance
rs250925023417:61,995,242A/G—likely pathogenic
rs7164027817:61,995,243C/T—likely benign
rs15076198317:61,995,248G/C—uncertain significance
rs88605323617:61,995,267G/A—uncertain significance
rs75750009517:61,995,268C/T—uncertain significance
rs13785322017:61,995,269G/Amissense variantpathogenic
rs250925042017:61,995,272G/A—uncertain significance
rs190745271117:61,995,274A/G—uncertain significance
rs74678025017:61,995,281G/T—uncertain significance
rs77290618417:61,995,298A/G—likely benign
rs20050331317:61,995,299C/T—uncertain significance
rs4129503917:61,995,300G/A—likely benign
rs141095623317:61,995,302G/T—likely benign
rs77460565517:61,995,303C/T—likely benign
rs86322330617:61,995,349C/T—pathogenic
rs76559561717:61,995,363A/C—uncertain significance
rs36796042517:61,995,369C/A—uncertain significance
rs79704445017:61,995,371A/C—pathogenic
rs86322330717:61,995,372C/T—pathogenic
rs86322331017:61,995,375A/G—pathogenic
rs7164027717:61,995,376C/T—pathogenic
rs100385649417:61,995,401G/C—uncertain significance
rs156780309517:61,995,414G/A—likely pathogenic
rs116746056717:61,995,417A/G—uncertain significance
rs6176249717:61,995,422C/G—uncertain significance
rs13785322217:61,995,432C/Gmissense variantpathogenic
rs7164027617:61,995,451T/C—uncertain significance
rs76646856617:61,995,455C/T—likely benign
rs53069748517:61,995,473T/C—likely benign
rs250925122817:61,995,478T/C—likely benign
rs190747880517:61,995,490C/T—likely pathogenic
rs214473937017:61,995,492T/C—pathogenic
rs214473938017:61,995,495T/G—pathogenic
rs214473939117:61,995,496C/T—pathogenic
rs250925131917:61,995,497C/T—pathogenic
rs86322330917:61,995,498T/A—pathogenic
rs20074166417:61,995,510C/G—likely benign
rs77733481317:61,995,511G/A—likely benign
rs19120293417:61,995,700G/A—conflicting classifications of pathogenicity
rs75104610617:61,995,713T/C—uncertain significance
rs78093948717:61,995,717A/G—uncertain significance
rs57752117617:61,995,721G/A—likely benign
rs6173535717:61,995,725A/G—uncertain significance
rs77840832117:61,995,726A/T—uncertain significance
rs6173535917:61,995,727G/T—conflicting classifications of pathogenicity
rs7164027417:61,995,743C/T—uncertain significance
rs75412655717:61,995,746T/G—likely pathogenic
rs14078705217:61,995,750C/T—uncertain significance
rs37195355417:61,995,752C/T—uncertain significance
rs7164027317:61,995,753G/A—uncertain significance
rs140079073917:61,995,760A/G—likely benign
rs15126363617:61,995,761G/A—likely benign

Showing 100 of 134 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.