NM_003560.4(PLA2G6):c.109C>T (p.Arg37Ter) AND Iron accumulation in brain
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 8, 2013
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000147282.7
Allele description [Variation Report for NM_003560.4(PLA2G6):c.109C>T (p.Arg37Ter)]
NM_003560.4(PLA2G6):c.109C>T (p.Arg37Ter)
Condition(s)
- Name:
- Iron accumulation in brain
- Identifiers:
- MedGen: C4021076; Human Phenotype Ontology: HP:0012675
Assertion and evidence details
Last Updated: Apr 15, 2024