rs5030860

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	3	carrier of hyperphenylalaninemia (non-PKU) allele
(G;G)	5.9	Hyperphenylalaninemia (non-phenylketonuria)

Reference

GRCh38 38.1/142

Chromosome

12

Position

102840474

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs5030860
dbSNP (classic)	rs5030860
ClinGen	rs5030860
ebi	rs5030860
HLI	rs5030860
Exac	rs5030860
Gnomad	rs5030860
Varsome	rs5030860
LitVar	rs5030860
Map	rs5030860
PheGenI	rs5030860
Biobank	rs5030860
1000 genomes	rs5030860
hgdp	rs5030860
ensembl	rs5030860
geneview	rs5030860
scholar	rs5030860
google	rs5030860
pharmgkb	rs5030860
gwascentral	rs5030860
openSNP	rs5030860
23andMe	rs5030860
SNPshot	rs5030860
SNPdbe	rs5030860
MSV3d	rs5030860
GWAS Ctlg	rs5030860

Max Magnitude

5.9

rs5030860, also known as c.1241A>G, p.Tyr414Cys and Y414C, represents a variant in the PAH gene on chromosome 12. This variant is among the most common PKU-associated mutations seen in Scandinavia.[PMID 12655544]

While other mutations in the PAH gene may cause phenylketonuria, when inherited recessively, the rs5030860(G) mutation is associated with non-phenylketonuria hyperphenylalaninemia.OMIM

The effect of tetrahydrobiopterin (BH4) treatment, the natural cofactor of PAH, has been tested in Y414C homozygotes. In 3 such Danish patients with PKU, 8-29 years of age, patients were treated with 20, 10, and 5 mg BH4/kg/day for 1 week on each dose, starting with 20 mg/kg. The three homozygous patients had phenylalanine declines of 73%, 51%, and 27%, respectively, indicating the effectiveness of this treatment.[PMID 20063067]

OMIM	612349
Desc
Variant	0017
Related	also

ClinVar
Risk	Rs5030860(G;G)
Alt	Rs5030860(G;G)
Reference	Rs5030860(A;A)
Significance	Pathogenic
Disease	Hyperphenylalaninemia not provided Phenylketonuria
Variation	info
Gene	PAH
CLNDBN	Hyperphenylalaninemia, non-pku not provided Phenylketonuria
Reversed	1
HGVS	NC_000012.11:g.103234252T>C
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000624.4, RCV000078508.6, RCV000150074.4,