Variant (rsID / SNP)
rs62642937
rs62642937 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PAH. Location: chromosome 12, position 103,237,484. Clinical significance in the table: Pathogenic.
Reference-table entries
PAHPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:103237484
- Cytoband
- 12q23.2
- HGVS
- NM_000277.3(PAH):c.1139C>T (p.Thr380Met)
- Allele change
- Missense_T380M
Associated conditions / phenotypes
Hyperphenylalaninemia|Phenylketonuria|Marfanoid habitus and intellectual disability|6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.