PHEX

phosphate regulating endopeptidase X-linked

Summary

The protein encoded by this gene is a transmembrane endopeptidase that belongs to the type II integral membrane zinc-dependent endopeptidase family. The protein is thought to be involved in bone and dentin mineralization and renal phosphate reabsorption. Mutations in this gene cause X-linked hypophosphatemic rickets. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

Known Variants681 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2519707414	X:22,050,695	T/C	—	uncertain significance
rs185830047	X:22,050,998	C/A	—	uncertain significance
rs149541983	X:22,051,016	A/G	—	likely benign
rs178710	X:22,051,034	A/G	—	benign
rs5951494	X:22,051,091	C/T	—	benign
rs781538001	X:22,051,113	C/T	—	likely benign
rs1057515841	X:22,051,114	G/T	—	uncertain significance
rs2519707917	X:22,051,124	A/T	—	pathogenic
rs2146974183	X:22,051,125	T/C	—	pathogenic
rs1926865530	X:22,051,126	G/T	—	pathogenic
rs147859619	X:22,051,133	G/C	—	conflicting classifications of pathogenicity
rs886043583	X:22,051,156	T/C	—	uncertain significance
rs773033853	X:22,051,167	C/G	—	likely benign
rs1926870020	X:22,051,172	A/T	—	pathogenic
rs935444170	X:22,051,179	C/A	—	likely benign
rs770573978	X:22,051,181	C/T	stop gained	pathogenic
rs773927462	X:22,051,187	G/T	—	likely benign
rs1456105345	X:22,051,195	C/T	—	likely benign
rs139862893	X:22,051,204	C/T	—	likely benign
rs760556268	X:22,051,205	G/A	—	likely benign
rs539005958	X:22,051,227	C/T	—	conflicting classifications of pathogenicity
rs1328468097	X:22,051,232	C/G	—	uncertain significance
rs1131691731	X:22,051,242	G/T	—	pathogenic
rs534550003	X:22,051,248	G/T	—	conflicting classifications of pathogenicity
rs5951685	X:22,051,558	T/C	—	benign
rs1443842202	X:22,056,570	G/A	—	likely benign
rs1556012055	X:22,056,584	C/G	—	pathogenic
rs2146979490	X:22,056,586	G/A	—	pathogenic
rs2519713488	X:22,056,587	T/G	—	uncertain significance
rs886039661	X:22,056,602	T/G	stop gained	pathogenic
rs202074612	X:22,056,610	C/T	—	pathogenic
rs1064794303	X:22,056,619	C/T	stop gained	pathogenic
rs886041626	X:22,056,622	G/T	stop gained	pathogenic
rs1602244810	X:22,056,644	G/C	—	likely pathogenic
rs2146979567	X:22,056,645	C/A	—	pathogenic
rs770630990	X:22,056,649	G/T	—	pathogenic
rs2519713606	X:22,056,652	G/A	—	uncertain significance
rs145393882	X:22,056,653	C/T	—	conflicting classifications of pathogenicity
rs751752229	X:22,056,654	G/A	—	uncertain significance
rs1556012100	X:22,056,656	G/T	—	pathogenic
rs1927131178	X:22,056,657	T/A	—	pathogenic
rs2519713656	X:22,056,667	T/C	—	likely benign
rs141733180	X:22,056,878	G/A	—	likely benign
rs178719	X:22,064,877	T/G	—	benign
rs178720	X:22,065,121	C/T	—	benign
rs2146987618	X:22,065,151	A/T	—	likely benign
rs2519722144	X:22,065,166	A/C	—	likely pathogenic
rs1927567325	X:22,065,167	G/C	—	pathogenic
rs2519722178	X:22,065,178	C/G	—	uncertain significance
rs2146987638	X:22,065,180	T/A	—	pathogenic
rs201394441	X:22,065,206	C/G	—	uncertain significance
rs2146987697	X:22,065,209	T/A	—	likely pathogenic
rs1556014263	X:22,065,210	G/T	—	pathogenic
rs2519722298	X:22,065,219	T/C	—	uncertain significance
rs1927572565	X:22,065,221	T/C	—	uncertain significance
rs1365010493	X:22,065,224	C/T	—	conflicting classifications of pathogenicity
rs769541316	X:22,065,225	G/T	—	uncertain significance
rs145224279	X:22,065,229	C/T	—	likely benign
rs767642869	X:22,065,230	G/C	—	pathogenic
rs1556014284	X:22,065,231	C/A	—	conflicting classifications of pathogenicity
rs1556014287	X:22,065,233	T/C	—	pathogenic
rs137853269	X:22,065,234	G/C	missense variant	pathogenic
rs2146987767	X:22,065,235	T/A	—	pathogenic
rs1569369653	X:22,065,243	G/A	—	pathogenic
rs2146987783	X:22,065,244	G/A	—	pathogenic
rs1057515842	X:22,065,265	C/G	—	uncertain significance
rs149168023	X:22,065,266	G/A	—	uncertain significance
rs112836831	X:22,065,268	A/G	—	likely benign
rs1207505931	X:22,065,273	T/A	—	likely benign
rs765647670	X:22,065,279	G/A	—	likely benign
rs1927580756	X:22,065,284	G/A	—	pathogenic
rs2146987874	X:22,065,285	G/T	—	pathogenic
rs1085307642	X:22,065,292	T/G	stop gained	pathogenic
rs2519722575	X:22,065,297	G/A	—	pathogenic
rs193922458	X:22,065,298	G/A	stop gained	pathogenic
rs779745439	X:22,065,304	A/G	—	benign
rs193922459	X:22,065,330	G/C	—	pathogenic
rs2146987952	X:22,065,331	T/C	—	pathogenic
rs139431328	X:22,065,499	A/G	—	likely benign
rs1283932566	X:22,094,488	C/G	—	likely benign
rs1929150904	X:22,094,504	A/G	—	pathogenic
rs2147019098	X:22,094,505	G/C	—	pathogenic
rs772238348	X:22,094,508	C/T	—	uncertain significance
rs2147019113	X:22,094,512	T/G	—	pathogenic
rs2147019118	X:22,094,517	A/T	—	pathogenic
rs1313536110	X:22,094,522	A/G	—	benign
rs2519752690	X:22,094,529	A/T	—	pathogenic
rs2519752697	X:22,094,534	G/A	—	likely benign
rs375376231	X:22,094,535	C/T	—	benign
rs370698419	X:22,094,536	G/A	—	benign
rs936060620	X:22,094,542	C/G	—	uncertain significance
rs777298207	X:22,094,543	C/T	—	benign
rs151306376	X:22,094,553	C/T	—	pathogenic
rs1602273860	X:22,094,555	G/A	—	likely benign
rs1037767064	X:22,094,559	G/A	—	uncertain significance
rs1929155246	X:22,094,560	C/A	—	uncertain significance
rs1556020460	X:22,094,571	T/A	—	pathogenic
rs1929155885	X:22,094,572	A/G	—	pathogenic
rs140678356	X:22,094,575	C/T	missense variant	uncertain significance
rs1158378032	X:22,094,576	A/G	—	likely benign

Showing 100 of 681 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.