NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) AND PAH-related disorder
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jun 1, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003415607.5
Allele description [Variation Report for NM_000277.3(PAH):c.1222C>T (p.Arg408Trp)]
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp)
Condition(s)
- Name:
- PAH-related disorder
- Synonyms:
- PAH-related condition
- Identifiers:
Assertion and evidence details
Last Updated: Aug 25, 2024