POU1F1

POU class 1 homeobox 1

Summary

This gene encodes a member of the POU family of transcription factors that regulate mammalian development. The protein regulates expression of several genes involved in pituitary development and hormone expression. Mutations in this genes result in combined pituitary hormone deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Known Variants168 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs771316195	3:87,308,799	T/C	—	uncertain significance
rs552876873	3:87,308,903	T/A	—	uncertain significance
rs144708108	3:87,309,047	T/C	—	conflicting classifications of pathogenicity
rs776355574	3:87,309,049	T/G	—	likely benign
rs764989592	3:87,309,056	A/T	—	likely benign
rs752117643	3:87,309,059	A/G	—	likely benign
rs104893755	3:87,309,109	G/A	missense variant	pathogenic
rs756263733	3:87,309,119	C/T	—	likely benign
rs1553674729	3:87,309,123	C/G	—	uncertain significance
rs780359925	3:87,309,127	G/A	—	pathogenic
rs749321525	3:87,309,128	G/A	—	likely benign
rs2471783330	3:87,309,137	C/T	—	pathogenic
rs773224032	3:87,309,142	C/T	—	uncertain significance
rs572428799	3:87,309,149	T/C	—	likely benign
rs104893760	3:87,309,172	C/A	stop gained	pathogenic
rs2471783428	3:87,309,197	A/C	—	likely benign
rs104893762	3:87,309,205	G/A	missense variant	pathogenic
rs1290613561	3:87,309,209	A/G	—	likely benign
rs1418782481	3:87,309,221	A/G	—	uncertain significance
rs1329413918	3:87,309,222	A/G	—	uncertain significance
rs104893764	3:87,309,232	C/T	missense variant	pathogenic
rs1244662553	3:87,309,239	A/G	—	likely benign
rs2106925411	3:87,309,249	G/A	—	uncertain significance
rs770960302	3:87,309,253	T/C	—	uncertain significance
rs762701632	3:87,309,261	G/A	—	likely benign
rs182127067	3:87,309,262	G/C	—	conflicting classifications of pathogenicity
rs2471783572	3:87,309,263	G/T	—	likely benign
rs1374670362	3:87,309,264	G/T	—	likely benign
rs200529199	3:87,309,265	G/A	—	likely benign
rs1200854186	3:87,309,267	G/A	—	likely benign
rs750994575	3:87,309,270	C/T	—	likely benign
rs1706482459	3:87,309,272	T/C	—	likely benign
rs2471783599	3:87,309,274	G/A	—	likely benign
rs536984508	3:87,310,404	C/T	—	likely benign
rs2471786440	3:87,310,406	T/A	—	likely benign
rs2471786444	3:87,310,410	A/G	—	likely benign
rs1282855883	3:87,310,412	A/G	—	likely benign
rs2471786446	3:87,310,413	T/C	—	likely benign
rs757365762	3:87,310,414	A/G	—	likely benign
rs515726221	3:87,310,422	C/A	—	pathogenic
rs2106927025	3:87,310,426	A/G	—	likely pathogenic
rs773523196	3:87,310,437	T/G	—	likely benign
rs761275346	3:87,310,439	G/A	—	conflicting classifications of pathogenicity
rs766603627	3:87,310,445	T/C	—	uncertain significance
rs2106927078	3:87,310,455	A/G	—	likely benign
rs201406891	3:87,310,488	A/C	—	conflicting classifications of pathogenicity
rs752983390	3:87,310,490	T/C	—	likely benign
rs371899469	3:87,310,492	T/C	—	likely benign
rs2471786591	3:87,310,493	G/A	—	likely benign
rs1439261393	3:87,310,503	G/C	—	likely benign
rs374875206	3:87,311,212	A/G	—	conflicting classifications of pathogenicity
rs2471787596	3:87,311,237	T/C	—	likely benign
rs765698999	3:87,311,240	C/T	—	likely benign
rs104893758	3:87,311,248	A/G	missense variant	pathogenic
rs143471841	3:87,311,252	G/T	—	likely benign
rs1474019169	3:87,311,267	C/G	—	likely benign
rs1172139949	3:87,311,279	A/G	—	likely benign
rs104893766	3:87,311,288	G/C	missense variant	pathogenic
rs104893765	3:87,311,310	C/T	missense variant	pathogenic
rs104893754	3:87,311,311	G/A	stop gained	pathogenic
rs2471787758	3:87,311,321	T/G	—	likely benign
rs1559614730	3:87,311,325	T/G	—	likely pathogenic
rs1706526416	3:87,311,339	G/A	—	conflicting classifications of pathogenicity
rs35677731	3:87,311,342	A/G	—	likely benign
rs2471787796	3:87,311,345	C/G	—	likely benign
rs1706526757	3:87,311,348	A/G	—	likely benign
rs104893756	3:87,311,353	C/G	missense variant	pathogenic
rs1285838016	3:87,311,354	C/T	—	likely benign
rs1038788343	3:87,311,363	C/T	—	likely benign
rs759494533	3:87,311,368	C/T	—	uncertain significance
rs886058914	3:87,311,369	A/G	—	conflicting classifications of pathogenicity
rs758184285	3:87,311,378	G/T	—	likely benign
rs2471787843	3:87,311,386	C/T	—	likely pathogenic
rs751174352	3:87,311,392	A/G	—	likely benign
rs756748819	3:87,311,396	A/G	—	likely benign
rs1338507659	3:87,311,398	A/G	—	likely benign
rs1706528037	3:87,311,399	A/G	—	likely benign
rs900192056	3:87,311,403	A/G	—	likely benign
rs999880722	3:87,311,404	G/A	—	likely benign
rs368456883	3:87,311,405	A/C	—	likely benign
rs9837195	3:87,313,147	A/G	—	benign
rs4988462	3:87,313,353	C/T	—	benign
rs760890038	3:87,313,419	G/C	—	likely benign
rs780655005	3:87,313,426	A/G	—	conflicting classifications of pathogenicity
rs2471791404	3:87,313,427	C/T	—	likely benign
rs754248685	3:87,313,429	A/C	—	likely benign
rs2471791412	3:87,313,430	G/A	—	likely benign
rs199746697	3:87,313,434	A/G	—	conflicting classifications of pathogenicity
rs104893763	3:87,313,444	T/A	stop gained	pathogenic
rs104893759	3:87,313,449	C/T	missense variant	pathogenic
rs142046308	3:87,313,450	G/A	—	pathogenic
rs104893761	3:87,313,473	A/C	missense variant	pathogenic
rs143373007	3:87,313,507	T/C	—	conflicting classifications of pathogenicity
rs1706575146	3:87,313,508	G/A	—	likely benign
rs1424242555	3:87,313,523	C/T	—	likely benign
rs1575977937	3:87,313,535	T/C	—	likely benign
rs2471791632	3:87,313,538	C/T	—	likely benign
rs138356138	3:87,313,540	G/A	—	conflicting classifications of pathogenicity
rs2471791682	3:87,313,553	C/T	—	likely benign
rs976923764	3:87,313,576	C/T	—	uncertain significance

Showing 100 of 168 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.