PROP1

PROP paired-like homeobox 1

Summary

This gene encodes a paired-like homeodomain transcription factor in the developing pituitary gland. Expression occurs prior to and is required for expression of pou domain transcription factor 1, which is responsible for pituitary development and hormone expression. Mutations in this gene have been associated with combined pituitary hormone deficiency-2 as well as deficiencies in luteinizing hormone, follicle-stimulating hormone, growth hormone, prolactin, and thyroid-stimulating hormone. [provided by RefSeq, Sep 2011]

Known Variants198 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs886060473	5:177,419,242	G/A	—	uncertain significance
rs1772656639	5:177,419,276	A/T	—	uncertain significance
rs116225539	5:177,419,291	G/A	—	benign
rs4604209	5:177,419,356	T/C	—	benign
rs2233788	5:177,419,587	A/G	—	benign
rs77626899	5:177,419,590	G/A	—	likely benign
rs2233787	5:177,419,658	T/C	—	conflicting classifications of pathogenicity
rs749918250	5:177,419,673	G/A	—	uncertain significance
rs372777572	5:177,419,720	G/C	—	uncertain significance
rs2113059012	5:177,419,746	G/T	—	likely benign
rs759632048	5:177,419,755	A/G	—	conflicting classifications of pathogenicity
rs2113059175	5:177,419,758	G/A	—	likely benign
rs775538186	5:177,419,759	G/T	—	uncertain significance
rs535993919	5:177,419,761	T/G	—	conflicting classifications of pathogenicity
rs2113059270	5:177,419,764	G/A	—	likely benign
rs761651134	5:177,419,767	G/A	—	likely benign
rs765098843	5:177,419,773	C/T	—	conflicting classifications of pathogenicity
rs751079956	5:177,419,782	G/A	—	likely benign
rs754625619	5:177,419,791	T/G	—	likely benign
rs1772667965	5:177,419,797	C/T	—	likely benign
rs780774091	5:177,419,799	A/G	—	conflicting classifications of pathogenicity
rs749659280	5:177,419,800	G/T	—	likely benign
rs121917845	5:177,419,809	C/T	stop gained	pathogenic
rs2480284181	5:177,419,810	C/T	—	likely pathogenic
rs1772668664	5:177,419,818	A/G	—	likely benign
rs2480284225	5:177,419,823	G/A	—	likely pathogenic
rs762529663	5:177,419,834	—	—	pathogenic
rs146547260	5:177,419,834	G/A	—	uncertain significance
rs746409513	5:177,419,841	C/G	—	uncertain significance
rs1336142892	5:177,419,842	G/T	—	likely benign
rs980492593	5:177,419,851	G/A	—	likely benign
rs73807328	5:177,419,857	C/T	—	conflicting classifications of pathogenicity
rs1284145562	5:177,419,869	G/A	—	likely benign
rs1215623421	5:177,419,875	G/A	—	likely benign
rs773082009	5:177,419,878	G/A	—	likely benign
rs2113059884	5:177,419,890	G/A	—	likely benign
rs1242042054	5:177,419,896	G/C	—	likely benign
rs751075306	5:177,419,903	G/T	—	uncertain significance
rs1772690090	5:177,419,914	T/C	—	likely benign
rs2480284581	5:177,419,917	T/A	—	likely benign
rs145883811	5:177,419,920	G/A	—	conflicting classifications of pathogenicity
rs2480284671	5:177,419,929	G/C	—	likely benign
rs2480284690	5:177,419,932	G/A	—	likely benign
rs758911793	5:177,419,935	A/G	—	conflicting classifications of pathogenicity
rs2480284752	5:177,419,958	T/C	—	uncertain significance
rs933972141	5:177,419,965	G/A	—	likely benign
rs143790367	5:177,419,966	G/A	—	conflicting classifications of pathogenicity
rs1800197	5:177,419,967	T/C	—	benign
rs200977367	5:177,419,968	G/A	—	conflicting classifications of pathogenicity
rs1275347516	5:177,419,977	C/T	—	likely benign
rs1404138454	5:177,419,980	A/G	—	likely benign
rs2480284846	5:177,419,983	G/T	—	likely benign
rs375721980	5:177,419,988	G/C	—	uncertain significance
rs2480284872	5:177,419,994	G/A	—	likely pathogenic
rs2480284878	5:177,419,995	A/G	—	likely benign
rs1772693340	5:177,419,998	C/T	—	likely benign
rs1582663127	5:177,420,000	G/A	—	likely benign
rs2113060490	5:177,420,001	T/C	—	likely benign
rs140207251	5:177,420,006	G/A	—	conflicting classifications of pathogenicity
rs778000934	5:177,420,007	C/T	—	likely benign
rs146918863	5:177,420,018	G/A	—	pathogenic
rs769171020	5:177,420,032	C/T	missense variant	pathogenic
rs121917839	5:177,420,033	G/A	missense variant	pathogenic
rs750799213	5:177,420,034	G/A	—	likely benign
rs2480285075	5:177,420,037	C/T	—	likely benign
rs2113060683	5:177,420,039	G/A	—	pathogenic
rs121917840	5:177,420,042	A/T	missense variant	pathogenic
rs2480285098	5:177,420,049	C/T	—	likely pathogenic
rs1057517041	5:177,420,050	T/A	—	pathogenic
rs371220258	5:177,420,053	G/T	—	likely benign
rs745807849	5:177,420,056	G/T	—	likely benign
rs755033429	5:177,420,057	G/T	—	likely benign
rs1214256480	5:177,420,058	G/C	—	likely benign
rs781223542	5:177,420,059	G/A	—	likely benign
rs1214143352	5:177,420,066	C/G	—	likely benign
rs137984221	5:177,420,316	A/G	—	likely benign
rs73346246	5:177,420,965	A/G	—	benign
rs369161431	5:177,421,100	G/A	—	likely benign
rs1436089021	5:177,421,106	C/T	—	likely pathogenic
rs1554182481	5:177,421,109	G/A	—	pathogenic
rs1562024419	5:177,421,110	G/C	—	uncertain significance
rs201266211	5:177,421,114	C/T	—	uncertain significance
rs766673446	5:177,421,115	G/A	stop gained	pathogenic
rs2480287619	5:177,421,122	A/G	—	likely benign
rs755446419	5:177,421,125	G/T	—	likely benign
rs756198779	5:177,421,131	A/C	—	likely benign
rs777985364	5:177,421,137	C/G	—	likely benign
rs369390421	5:177,421,138	C/T	—	likely benign
rs530283224	5:177,421,139	G/A	—	uncertain significance
rs2480287672	5:177,421,140	G/A	—	likely benign
rs778552763	5:177,421,143	A/G	—	likely benign
rs114584451	5:177,421,146	A/G	—	likely benign
rs2113063532	5:177,421,147	C/A	—	uncertain significance
rs137853100	5:177,421,153	C/T	missense variant	pathogenic
rs121917844	5:177,421,154	G/A	stop gained	pathogenic
rs760209079	5:177,421,164	G/A	—	likely benign
rs776294029	5:177,421,167	G/A	—	likely benign
rs2480287777	5:177,421,170	G/A	—	likely benign
rs761347600	5:177,421,173	C/T	—	likely benign
rs794726693	5:177,421,175	G/A	stop gained	pathogenic

Showing 100 of 198 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.