Variant (rsID / SNP)
rs62509021
rs62509021 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PAH. Location: chromosome 12, position 103,233,031. Clinical significance in the table: Benign.
Reference-table entries
PAHBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:103233031
- Cytoband
- 12q23.2
- HGVS
- NM_000277.3(PAH):c.1316-35C>T
- Allele change
- Silent
Associated conditions / phenotypes
Phenylketonuria
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.