Variant (rsID / SNP)

rs5030853

rs5030853 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PAH. Location: chromosome 12, position 103,245,479. 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: 12:103245479
Cytoband: 12q23.2
HGVS: NM_000277.3(PAH):c.898G>T (p.Ala300Ser)
Allele change: Missense_A300S

Associated conditions / phenotypes

Phenylketonuria|Hyperphenylalaninemia|Inborn genetic diseases

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.