Variant (rsID / SNP)

rs199475679

rs199475679 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PAH. Location: chromosome 12, position 103,260,377. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PAHLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:103260377
Cytoband: 12q23.2
HGVS: NM_000277.3(PAH):c.506G>A (p.Arg169His)
Allele change: Missense_R169H

Associated conditions / phenotypes

Phenylketonuria|6-Pyruvoyl-tetrahydrobiopterin synthase deficiency

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.