Variant (rsID / SNP)

rs5030849

rs5030849 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PAH. Location: chromosome 12, position 103,246,653. Clinical significance in the table: Pathogenic.

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Reference-table entries

PAHPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:103246653
Cytoband: 12q23.2
HGVS: NM_000277.3(PAH):c.782G>A (p.Arg261Gln)
Allele change: Missense_R261P

Associated conditions / phenotypes

Phenylketonuria

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.