Variant (rsID / SNP)

rs199475681

rs199475681 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PAH. Location: chromosome 12, position 103,271,313. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PAHUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 12:103271313
Cytoband: 12q23.2
HGVS: NM_000277.3(PAH):c.368G>T (p.Arg123Ile)
Allele change: Missense_R123I

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.