Variant (rsID / SNP)

rs62516146

rs62516146 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PAH. Location: chromosome 12, position 103,246,588. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PAHPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:103246588
Cytoband: 12q23.2
HGVS: NM_000277.3(PAH):c.842+5G>A
Allele change: Silent

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.