PAH

phenylalanine hydroxylase

Summary

This gene encodes a member of the biopterin-dependent aromatic amino acid hydroxylase protein family. The encoded phenylalanine hydroxylase enzyme hydroxylates phenylalanine to tyrosine and is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria. [provided by RefSeq, Aug 2017]

Known Variants1,034 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs185081299	12:103,232,218	A/G	—	uncertain significance
rs189466448	12:103,232,254	G/A	—	uncertain significance
rs180991851	12:103,232,303	T/C	—	uncertain significance
rs928972999	12:103,232,681	G/A	—	uncertain significance
rs1801153	12:103,232,766	C/T	—	benign
rs375319584	12:103,232,809	T/C	—	uncertain significance
rs569495604	12:103,232,874	C/T	—	uncertain significance
rs1238562736	12:103,232,911	T/C	—	uncertain significance
rs372637021	12:103,232,934	C/A	—	uncertain significance
rs1440206706	12:103,232,959	T/G	—	likely benign
rs1258710210	12:103,232,965	C/A	—	uncertain significance
rs747923532	12:103,232,968	G/A	—	likely benign
rs2499609842	12:103,232,970	G/A	—	uncertain significance
rs2136630826	12:103,232,971	G/T	—	likely benign
rs76542238	12:103,232,972	G/T	missense variant	pathogenic
rs1192400891	12:103,232,973	C/T	—	pathogenic
rs1874484048	12:103,232,978	C/A	—	uncertain significance
rs957481163	12:103,232,980	A/C	—	likely benign
rs1402168594	12:103,232,982	G/A	—	likely pathogenic
rs1285012083	12:103,232,983	G/T	—	likely benign
rs1874485021	12:103,232,994	C/A	—	likely pathogenic
rs1592944816	12:103,232,997	C/T	—	pathogenic
rs760830761	12:103,232,998	T/G	—	pathogenic
rs62509020	12:103,233,001	A/G	—	likely benign
rs2136630870	12:103,233,004	G/T	—	likely benign
rs768737085	12:103,233,005	A/G	—	likely benign
rs2499609935	12:103,233,007	A/G	—	likely benign
rs62508635	12:103,233,011	A/G	—	not provided
rs2499609950	12:103,233,013	C/T	—	likely benign
rs62509021	12:103,233,031	A/G	—	benign
rs77181841	12:103,234,109	C/T	—	benign
rs190655222	12:103,234,158	G/A	—	likely benign
rs1874533093	12:103,234,161	A/G	—	likely benign
rs550259402	12:103,234,162	G/T	—	likely benign
rs2499610895	12:103,234,165	G/A	—	likely benign
rs2499610896	12:103,234,168	A/C	—	likely benign
rs199979357	12:103,234,169	A/G	—	likely benign
rs2499610900	12:103,234,171	T/G	—	likely benign
rs62508650	12:103,234,172	A/T	—	pathogenic
rs1874533541	12:103,234,173	C/G	—	likely pathogenic
rs62508649	12:103,234,174	T/C	—	pathogenic
rs1799970	12:103,234,176	A/G	—	pathogenic
rs5030861	12:103,234,177	C/A	—	pathogenic
rs989098970	12:103,234,178	T/C	—	uncertain significance
rs1874535103	12:103,234,181	T/C	—	uncertain significance
rs748303375	12:103,234,188	A/G	—	likely benign
rs1592945394	12:103,234,189	T/A	—	likely pathogenic
rs199475659	12:103,234,192	G/A	missense variant	pathogenic
rs770034263	12:103,234,194	C/T	—	likely benign
rs199475607	12:103,234,204	A/G	—	likely pathogenic
rs2136631945	12:103,234,206	C/T	—	likely benign
rs794727047	12:103,234,207	T/G	—	uncertain significance
rs764974157	12:103,234,208	G/T	—	likely pathogenic
rs567261857	12:103,234,211	G/C	missense variant	uncertain significance
rs59326968	12:103,234,215	A/G	—	benign
rs1439603624	12:103,234,220	C/T	—	uncertain significance
rs199475670	12:103,234,222	A/T	stop gained	pathogenic
rs148041893	12:103,234,223	A/G	—	likely benign
rs2499611021	12:103,234,227	C/T	—	likely benign
rs199475621	12:103,234,229	C/T	—	uncertain significance
rs199475696	12:103,234,231	A/G	—	likely pathogenic
rs767075719	12:103,234,234	C/A	—	likely pathogenic
rs1162831467	12:103,234,235	T/C	—	pathogenic
rs2136632019	12:103,234,236	T/C	—	likely benign
rs752255985	12:103,234,237	T/C	—	pathogenic
rs755787172	12:103,234,239	G/A	—	likely benign
rs1874539947	12:103,234,240	G/T	—	pathogenic
rs62644501	12:103,234,241	T/G	—	pathogenic
rs1272159852	12:103,234,242	G/A	—	likely benign
rs1371700813	12:103,234,243	T/C	—	likely pathogenic
rs62644471	12:103,234,244	A/G	—	pathogenic
rs1874540728	12:103,234,245	T/G	—	likely benign
rs1445893088	12:103,234,246	G/T	—	likely pathogenic
rs1874541064	12:103,234,247	G/T	—	likely pathogenic
rs1482820632	12:103,234,248	G/A	—	likely benign
rs2136632085	12:103,234,249	T/A	—	pathogenic
rs62644499	12:103,234,250	C/A	missense variant	pathogenic
rs1801152	12:103,234,251	G/A	synonymous variant	benign
rs5030860	12:103,234,252	T/C	missense variant	pathogenic
rs281865437	12:103,234,253	A/G	missense variant	uncertain significance
rs79931499	12:103,234,255	C/T	missense variant	pathogenic
rs62644467	12:103,234,256	G/T	—	pathogenic
rs1874542925	12:103,234,258	A/C	—	uncertain significance
rs62644477	12:103,234,261	G/T	stop gained	pathogenic
rs62644475	12:103,234,264	A/G	—	pathogenic
rs1874543567	12:103,234,265	A/T	—	likely pathogenic
rs5030859	12:103,234,270	C/T	missense variant	pathogenic
rs2499611183	12:103,234,272	A/C	—	likely benign
rs62644473	12:103,234,273	G/A	missense variant	pathogenic
rs62644465	12:103,234,274	G/A	—	pathogenic
rs773526027	12:103,234,275	T/C	—	likely pathogenic
rs62644469	12:103,234,276	A/G	—	likely pathogenic
rs749613899	12:103,234,277	T/C	—	likely pathogenic
rs771382634	12:103,234,278	T/C	—	likely benign
rs886043085	12:103,234,283	C/G	—	uncertain significance
rs5030857	12:103,234,285	G/A	missense variant	pathogenic
rs1399587250	12:103,234,288	A/C	—	likely pathogenic
rs62508725	12:103,234,289	A/G	—	likely pathogenic
rs1874549626	12:103,234,293	C/A	—	likely pathogenic
rs62507322	12:103,234,294	C/T	—	pathogenic

Showing 100 of 1,034 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.