NM_000169.3(GLA):c.570C>A (p.Ala190=) AND Fabry disease
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Feb 9, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003622978.2
Allele description [Variation Report for NM_000169.3(GLA):c.570C>A (p.Ala190=)]
NM_000169.3(GLA):c.570C>A (p.Ala190=)
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
-
Der1-like domain family, member 1 [Mus musculus]
Der1-like domain family, member 1 [Mus musculus]gi|13097435|gb|AAH03454.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024