Variant (rsID / SNP)

rs199475598

rs199475598 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PAH. Location: chromosome 12, position 103,306,572. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

PAHPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:103306572
Cytoband: 12q23.2
HGVS: NM_000277.3(PAH):c.165T>G (p.Phe55Leu)
Allele change: Missense_F55L

Associated conditions / phenotypes

Phenylketonuria|Hyperphenylalaninemia|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.