Variant (rsID / SNP)

rs5030847

rs5030847 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PAH. Location: chromosome 12, position 103,246,681. 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: 12:103246681
Cytoband: 12q23.2
HGVS: NM_000277.3(PAH):c.754C>T (p.Arg252Trp)
Allele change: Missense_R252W

Associated conditions / phenotypes

Phenylketonuria|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.