NM_000277.3(PAH):c.350del (p.Thr117fs) AND Phenylketonuria
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Dec 22, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000106355.2
Allele description [Variation Report for NM_000277.3(PAH):c.350del (p.Thr117fs)]
NM_000277.3(PAH):c.350del (p.Thr117fs)
Condition(s)
Assertion and evidence details
Last Updated: Apr 23, 2022
SCV000143854