NM_000277.3(PAH):c.916A>G (p.Ile306Val) AND not provided
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Jun 1, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000089157.23
Allele description [Variation Report for NM_000277.3(PAH):c.916A>G (p.Ile306Val)]
NM_000277.3(PAH):c.916A>G (p.Ile306Val)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Aug 4, 2024