NM_000277.3(PAH):c.140C>T (p.Ala47Val) AND Phenylketonuria
- Germline classification:
- Likely pathogenic (4 submissions)
- Last evaluated:
- May 22, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001200011.7
Allele description [Variation Report for NM_000277.3(PAH):c.140C>T (p.Ala47Val)]
NM_000277.3(PAH):c.140C>T (p.Ala47Val)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024