NM_000169.3(GLA):c.490G>A (p.Val164Ile) AND Fabry disease
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 6, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001305815.8
Allele description [Variation Report for NM_000169.3(GLA):c.490G>A (p.Val164Ile)]
NM_000169.3(GLA):c.490G>A (p.Val164Ile)
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
-
PREDICTED: Cucumis melo ubiquitin carboxyl-terminal hydrolase 24 (LOC103488751),...
PREDICTED: Cucumis melo ubiquitin carboxyl-terminal hydrolase 24 (LOC103488751), mRNAgi|2316583523|ref|XM_008447639.3|Nucleotide
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Last Updated: Sep 29, 2024