Have questions? Visit https://www.reddit.com/r/SNPedia

rs5030860

From SNPedia

Orientationminus
Stabilizedminus
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)
ReferenceGRCh38 38.1/142
Chromosome12
Position102840474
GenePAH
is asnp
is mentioned by
dbSNPrs5030860
dbSNP (old)rs5030860
ClinGenrs5030860
ebirs5030860
HLIrs5030860
Exacrs5030860
Gnomadrs5030860
Varsomers5030860
Maprs5030860
PheGenIrs5030860
Biobankrs5030860
1000 genomesrs5030860
hgdprs5030860
ensemblrs5030860
gopubmedrs5030860
geneviewrs5030860
scholarrs5030860
googlers5030860
pharmgkbrs5030860
gwascentralrs5030860
openSNPrs5030860
23andMers5030860
23andMe allrs5030860
SNP Nexus

SNPshotrs5030860
SNPdbers5030860
MSV3drs5030860
GWAS Ctlgrs5030860
Max Magnitude5.9

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]

OMIM612349
Desc
Variant0017
Relatedalso


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,