PTCHD1

patched domain containing 1

Summary

This gene encodes a membrane protein with a patched domain. The encoded protein is similar to Drosophila proteins which act as receptors for the morphogen sonic hedgehog. Deletions in this gene, which is located on the X chromosome, are associated with intellectual disability and autism (PMID: 21091464, PMID: 20844286). [provided by RefSeq, Aug 2011]

Known Variants179 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs993002621	X:23,352,924	C/T	—	likely benign
rs1064796945	X:23,352,994	T/C	missense variant	pathogenic
rs752692580	X:23,353,008	C/T	—	uncertain significance
rs756043378	X:23,353,010	G/A	—	likely benign
rs773594372	X:23,353,019	C/T	—	likely benign
rs1921121432	X:23,353,039	G/A	—	uncertain significance
rs1463150822	X:23,353,041	C/G	—	uncertain significance
rs1921122018	X:23,353,047	C/A	—	uncertain significance
rs2146604111	X:23,353,063	A/C	—	uncertain significance
rs776836458	X:23,353,070	C/T	—	likely benign
rs12014412	X:23,353,085	G/A	—	benign
rs1569130365	X:23,353,087	C/G	—	likely pathogenic
rs374630147	X:23,353,097	C/G	—	uncertain significance
rs1135401941	X:23,353,105	T/A	—	uncertain significance
rs763356514	X:23,353,107	C/T	—	uncertain significance
rs2518737523	X:23,353,108	T/A	—	uncertain significance
rs774288630	X:23,353,109	C/G	—	likely benign
rs2518737566	X:23,353,135	T/C	—	uncertain significance
rs2146604247	X:23,353,137	G/A	—	uncertain significance
rs372019597	X:23,353,155	C/T	—	likely benign
rs2518737614	X:23,353,159	T/G	—	uncertain significance
rs2518737619	X:23,353,162	C/A	—	uncertain significance
rs2518737631	X:23,353,171	A/G	—	uncertain significance
rs376309663	X:23,353,195	A/G	—	likely benign
rs373105249	X:23,353,209	C/A	—	uncertain significance
rs770443008	X:23,353,218	G/T	—	uncertain significance
rs2518737695	X:23,353,222	A/G	—	uncertain significance
rs778361854	X:23,353,225	G/A	—	likely benign
rs2518737709	X:23,353,245	T/A	—	uncertain significance
rs1336230916	X:23,353,302	G/A	—	uncertain significance
rs750197808	X:23,353,308	A/T	—	conflicting classifications of pathogenicity
rs369975097	X:23,353,328	C/T	—	likely benign
rs7052177	X:23,374,882	T/A	—	—
rs5925760	X:23,383,444	G/A	intron variant	—
rs5925763	X:23,397,411	C/T	—	benign
rs753933935	X:23,397,714	G/A	—	uncertain significance
rs747642714	X:23,397,804	G/A	—	uncertain significance
rs370265016	X:23,397,812	C/T	—	uncertain significance
rs773132578	X:23,397,814	T/C	—	uncertain significance
rs199597484	X:23,397,822	G/C	—	uncertain significance
rs2518759694	X:23,397,824	C/T	—	likely benign
rs2518759702	X:23,397,831	G/A	—	uncertain significance
rs908889815	X:23,397,847	G/A	—	conflicting classifications of pathogenicity
rs147324438	X:23,397,873	A/G	—	conflicting classifications of pathogenicity
rs1060499778	X:23,397,898	A/C	missense variant	pathogenic
rs1175938564	X:23,397,899	G/C	—	uncertain significance
rs758901997	X:23,397,902	C/T	—	likely benign
rs747348529	X:23,397,908	G/A	—	likely benign
rs1466222048	X:23,397,936	G/A	—	uncertain significance
rs747612889	X:23,397,938	C/T	—	likely benign
rs769407241	X:23,397,939	G/A	—	likely benign
rs1655451720	X:23,397,948	C/T	—	uncertain significance
rs749280055	X:23,397,960	C/G	—	uncertain significance
rs2518759836	X:23,397,994	A/G	—	conflicting classifications of pathogenicity
rs794727313	X:23,398,012	A/G	—	uncertain significance
rs144982584	X:23,398,013	C/T	—	likely benign
rs2518759859	X:23,398,018	T/C	—	uncertain significance
rs1183406861	X:23,398,064	T/C	—	likely benign
rs765424375	X:23,398,070	A/T	—	uncertain significance
rs368662150	X:23,398,107	C/T	—	uncertain significance
rs1569140042	X:23,398,109	T/G	—	likely benign
rs148630483	X:23,398,154	C/T	—	uncertain significance
rs142102974	X:23,398,155	G/A	—	likely benign
rs778929986	X:23,398,157	A/C	—	likely benign
rs745672569	X:23,398,164	C/T	—	uncertain significance
rs775143052	X:23,398,166	T/C	—	likely benign
rs762133513	X:23,398,173	G/T	—	conflicting classifications of pathogenicity
rs794727312	X:23,398,178	C/T	—	uncertain significance
rs773301039	X:23,398,187	T/G	—	likely benign
rs969176888	X:23,398,192	T/C	—	uncertain significance
rs2146642061	X:23,398,209	C/G	—	uncertain significance
rs2518760063	X:23,398,211	G/A	—	likely benign
rs5926304	X:23,398,214	T/C	—	benign
rs2518760076	X:23,398,219	C/G	—	uncertain significance
rs1438077547	X:23,398,237	G/A	—	uncertain significance
rs1555912102	X:23,398,249	G/A	—	likely pathogenic
rs1922524280	X:23,398,254	G/C	—	likely pathogenic
rs1060499615	X:23,398,263	G/A	—	uncertain significance
rs2518760163	X:23,398,284	G/C	—	likely pathogenic
rs1162935568	X:23,398,296	G/A	—	uncertain significance
rs773352412	X:23,398,312	A/G	—	uncertain significance
rs727504113	X:23,398,359	G/A	—	conflicting classifications of pathogenicity
rs201933353	X:23,398,373	T/C	—	likely benign
rs5971112	X:23,398,637	T/G	—	benign
rs73205368	X:23,399,501	T/C	intron variant	—
rs17343407	X:23,410,490	T/C	—	likely benign
rs6653680	X:23,410,622	G/C	—	benign
rs144843249	X:23,410,624	T/C	—	likely benign
rs200934310	X:23,410,636	C/G	—	benign
rs1555912666	X:23,410,646	A/G	—	uncertain significance
rs1569142951	X:23,410,656	T/C	—	likely benign
rs1057524481	X:23,410,658	A/T	—	uncertain significance
rs1569142959	X:23,410,666	C/T	—	uncertain significance
rs375720878	X:23,410,715	T/G	—	likely benign
rs369968343	X:23,410,745	C/G	—	conflicting classifications of pathogenicity
rs1410644394	X:23,410,771	C/G	—	uncertain significance
rs1922867601	X:23,410,777	T/C	—	uncertain significance
rs1555912675	X:23,410,798	T/G	—	uncertain significance
rs2146651912	X:23,410,821	A/C	—	uncertain significance
rs2518766580	X:23,410,834	G/C	—	uncertain significance

Showing 100 of 179 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.