NM_000169.3(GLA):c.647A>G (p.Tyr216Cys) AND Fabry disease
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Sep 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000822976.17
Allele description [Variation Report for NM_000169.3(GLA):c.647A>G (p.Tyr216Cys)]
NM_000169.3(GLA):c.647A>G (p.Tyr216Cys)
Condition(s)
- Name:
- Fabry disease
- Synonyms:
- Angiokeratoma, diffuse; Anderson-Fabry disease; Hereditary dystopic lipidosis; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010526; MedGen: C0002986; Orphanet: 324; OMIM: 301500; Human Phenotype Ontology: HP:0001071
Assertion and evidence details
Last Updated: Nov 3, 2024