NM_000169.2(GLA):c.847C>T (p.Gln283Ter) AND Fabry disease
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 23, 2015
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000283096.1
Allele description
NM_000169.2(GLA):c.847C>T (p.Gln283Ter)
Condition(s)
- Name:
- Fabry disease
- Synonyms:
- Angiokeratoma corporis diffusum; Fabry's disease; Fabry syndrome
- Identifiers:
- MedGen: C0002986; Orphanet: 324; OMIM: 301500; Human Phenotype Ontology: HP:0001071
Assertion and evidence details
Last Updated: Jul 21, 2018