rs5030860
| Orientation | minus |
| Stabilized | 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 |
| 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]
| 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, |
