rs5030853
A SNP in the PAH gene on chromosome 12. Its most notable genotype is A;A: Phenylketonuria
- Gene
- PAH
- Location
- Chr 12102,851,701 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- C;CGoodcommon in clinvar
- A;CBadCarrier of a non-phenylketonuria hyperphenylalaninemia allele
- A;AMost notableBadPhenylketonuria
SNPedia records rs5030853 on the minus strand: (G;G), (G;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other PAH SNPs
- rs5030841G;GPhenylketonuriaVery important
- rs5030843T;TPhenyketonuriaVery important
- rs5030846A;APhenyketonuriaVery important
- rs5030847A;APhenyketonuriaVery important
- rs5030849T;TPHENYLKETONURIA, MILDVery important
- rs5030850A;APhenyketonuriaVery important
- rs5030851A;APhenyketonuriaVery important
- rs5030852T;TPhenylketonuriaVery important
Notes
From SNPedia
Show notes, about 200 words
aka c.898G>T (p.Ala300Ser or A300S) FTDNA & MyHeritage name: VG12S8480 The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency This missense mutation results in a larger side chain Serine, which causes destabilization due to change of polarity in catalytic domain core and can lead to Phenylketonuria or hyperphenylalaninemia. This mutation was associated with BH4 responsiveness as well. Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene. This study reports that A300S is "clearly associated with the mild PKU phenotypes". No A300S homozygotes were included in this study however compound heterozygotes were observed. This study stated that when two mutations are in a compound heterozygous state and have the same predicted effect on the phenotype, the phenotype resulting from them will be less severe. For instance, when the R241H (another PKU mutation) and A300S are combined with a null mutation, they will confer a mild PKU phenotype, and when they are together, they will impart the mild hyperphenylalaninemia phenotype.
A;C
see hyperphenylalaninemia and the ClinVar link on the SNP page for this SNP
Source and license
Adapted from rs5030853 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.