NM_000169.3(GLA):c.620_630delinsCACT (p.Tyr207fs) AND Fabry disease
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Aug 6, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001193071.2
Allele description [Variation Report for NM_000169.3(GLA):c.620_630delinsCACT (p.Tyr207fs)]
NM_000169.3(GLA):c.620_630delinsCACT (p.Tyr207fs)
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
-
Mus musculus TatD DNase domain containing 1 (Tatdn1), mRNA
Mus musculus TatD DNase domain containing 1 (Tatdn1), mRNAgi|141801775|ref|NM_175151.3|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 16, 2024