Variant (rsID / SNP)

rs74486803

rs74486803 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PAH. Location: chromosome 12, position 103,249,093. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PAHPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:103249093
Cytoband: 12q23.2
HGVS: NM_000277.3(PAH):c.527G>T (p.Arg176Leu)
Allele change: Missense_R176L

Associated conditions / phenotypes

Hyperphenylalaninemia|Phenylketonuria|6-Pyruvoyl-tetrahydrobiopterin synthase deficiency|See cases

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.