NM_000277.3(PAH):c.1184C>A (p.Ala395Asp) AND Phenylketonuria
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jul 30, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002509213.1
Allele description [Variation Report for NM_000277.3(PAH):c.1184C>A (p.Ala395Asp)]
NM_000277.3(PAH):c.1184C>A (p.Ala395Asp)
Condition(s)
Assertion and evidence details
Last Updated: Jan 21, 2023