PTCH1

patched 1

Summary

This gene encodes a member of the patched family of proteins and a component of the hedgehog signaling pathway. Hedgehog signaling is important in embryonic development and tumorigenesis. The encoded protein is the receptor for the secreted hedgehog ligands, which include sonic hedgehog, indian hedgehog and desert hedgehog. Following binding by one of the hedgehog ligands, the encoded protein is trafficked away from the primary cilium, relieving inhibition of the G-protein-coupled receptor smoothened, which results in activation of downstream signaling. Mutations of this gene have been associated with basal cell nevus syndrome and holoprosencephaly. [provided by RefSeq, Aug 2017]

Known Variants3,436 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs138499623	9:98,205,334	G/A	—	likely benign
rs551093780	9:98,205,338	A/G	—	uncertain significance
rs963000528	9:98,205,403	G/A	—	uncertain significance
rs357565	9:98,205,443	C/A	3 prime UTR variant	benign
rs992312438	9:98,205,462	A/G	—	uncertain significance
rs757611119	9:98,205,466	A/G	—	uncertain significance
rs118174136	9:98,205,518	C/T	—	benign
rs548583404	9:98,205,537	A/G	—	uncertain significance
rs1395471972	9:98,205,564	C/T	—	uncertain significance
rs1006981555	9:98,205,595	C/A	—	uncertain significance
rs28485160	9:98,205,645	T/C	—	benign
rs773035324	9:98,205,880	C/A	—	uncertain significance
rs1038475537	9:98,205,938	G/T	—	uncertain significance
rs773680534	9:98,206,031	T/G	—	uncertain significance
rs932959120	9:98,206,250	T/G	—	uncertain significance
rs776036229	9:98,206,261	G/C	—	uncertain significance
rs868749157	9:98,206,399	T/A	—	conflicting classifications of pathogenicity
rs28380046	9:98,206,400	A/T	—	benign
rs1837680803	9:98,206,412	A/T	—	uncertain significance
rs1357696436	9:98,206,495	G/A	—	uncertain significance
rs188061818	9:98,206,500	C/T	—	benign
rs538345753	9:98,206,529	T/C	—	uncertain significance
rs1331556943	9:98,206,579	C/T	—	uncertain significance
rs142942544	9:98,206,605	G/C	—	benign
rs531230280	9:98,206,674	G/A	—	benign
rs113213198	9:98,206,770	G/C	—	benign
rs992648722	9:98,206,771	A/G	—	uncertain significance
rs949498288	9:98,206,779	A/G	—	uncertain significance
rs565918654	9:98,206,786	C/T	—	likely benign
rs892705165	9:98,206,790	C/T	—	uncertain significance
rs1837735115	9:98,206,918	G/A	—	uncertain significance
rs73540175	9:98,206,966	C/T	—	benign
rs146131736	9:98,206,967	G/A	—	benign
rs115675849	9:98,206,973	G/A	—	benign
rs1057515713	9:98,207,027	T/C	—	uncertain significance
rs1039220329	9:98,207,037	T/C	—	uncertain significance
rs73540181	9:98,207,059	T/G	—	benign
rs572321616	9:98,207,119	A/C	—	uncertain significance
rs113253600	9:98,207,130	A/G	—	likely benign
rs112320257	9:98,207,140	A/G	—	likely benign
rs1057515714	9:98,207,262	G/C	—	uncertain significance
rs16909865	9:98,207,302	C/G	3 prime UTR variant	benign
rs756098510	9:98,207,317	C/T	—	uncertain significance
rs1837774312	9:98,207,322	A/G	—	uncertain significance
rs187832324	9:98,207,419	G/A	—	uncertain significance
rs930382710	9:98,207,455	T/C	—	uncertain significance
rs192352160	9:98,207,508	T/C	—	uncertain significance
rs770443972	9:98,207,522	G/C	—	uncertain significance
rs572803728	9:98,207,543	C/T	—	conflicting classifications of pathogenicity
rs1020973772	9:98,207,600	T/G	—	uncertain significance
rs185406054	9:98,207,609	T/G	—	benign
rs538912814	9:98,207,732	A/G	—	uncertain significance
rs188320042	9:98,207,772	C/T	—	uncertain significance
rs775198573	9:98,207,816	G/A	—	uncertain significance
rs73540186	9:98,207,824	C/G	—	benign
rs114243832	9:98,207,874	G/A	—	benign
rs144656847	9:98,207,888	G/A	—	likely benign
rs75765727	9:98,207,895	G/A	—	benign
rs763571205	9:98,207,913	C/G	—	uncertain significance
rs777077097	9:98,207,925	C/T	—	uncertain significance
rs776158552	9:98,208,052	G/A	—	uncertain significance
rs890920802	9:98,208,083	G/A	—	uncertain significance
rs964764151	9:98,208,119	C/T	—	uncertain significance
rs937053306	9:98,208,197	T/C	—	uncertain significance
rs192994934	9:98,208,225	T/G	—	conflicting classifications of pathogenicity
rs576591779	9:98,208,427	G/A	—	benign
rs28688501	9:98,208,438	C/G	—	benign
rs28401363	9:98,208,444	G/A	—	likely benign
rs977327674	9:98,208,489	A/C	—	uncertain significance
rs769353632	9:98,208,507	G/T	—	uncertain significance
rs576864680	9:98,208,522	A/G	—	likely benign
rs142840663	9:98,208,570	C/T	—	benign
rs147428149	9:98,208,590	C/T	—	likely benign
rs1837877053	9:98,208,613	G/A	—	uncertain significance
rs189667531	9:98,208,674	C/T	—	uncertain significance
rs780500071	9:98,208,678	A/T	—	benign
rs189547730	9:98,208,948	C/T	—	likely benign
rs111532669	9:98,208,964	T/C	—	likely benign
rs56237839	9:98,209,156	T/C	—	benign
rs2136570427	9:98,209,195	C/T	—	likely benign
rs2537993747	9:98,209,196	A/G	—	uncertain significance
rs1837949550	9:98,209,197	G/T	—	conflicting classifications of pathogenicity
rs972576439	9:98,209,198	T/C	—	conflicting classifications of pathogenicity
rs2537993781	9:98,209,200	G/A	—	likely benign
rs2136570475	9:98,209,201	G/A	—	uncertain significance
rs2537993804	9:98,209,202	A/T	—	uncertain significance
rs2537993815	9:98,209,203	G/A	—	likely benign
rs770268061	9:98,209,204	C/T	—	conflicting classifications of pathogenicity
rs1325469372	9:98,209,206	G/A	—	likely benign
rs1347860599	9:98,209,207	C/T	—	conflicting classifications of pathogenicity
rs2537993881	9:98,209,208	T/G	—	uncertain significance
rs864622100	9:98,209,210	C/A	—	conflicting classifications of pathogenicity
rs56023271	9:98,209,213	C/T	—	conflicting classifications of pathogenicity
rs143464326	9:98,209,214	G/A	—	conflicting classifications of pathogenicity
rs2537993977	9:98,209,215	G/A	—	likely benign
rs775192032	9:98,209,216	G/A	—	uncertain significance
rs746800536	9:98,209,217	G/A	—	uncertain significance
rs1837952286	9:98,209,218	C/A	—	uncertain significance
rs1354112241	9:98,209,219	C/T	—	uncertain significance
rs1564004291	9:98,209,220	T/C	—	uncertain significance

Showing 100 of 3,436 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.