NM_000169.3(GLA):c.1068dup (p.Gln357fs) AND Fabry disease
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jul 29, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002489830.2
Allele description [Variation Report for NM_000169.3(GLA):c.1068dup (p.Gln357fs)]
NM_000169.3(GLA):c.1068dup (p.Gln357fs)
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
-
olfactory receptor 6C3 isoform 1 [Homo sapiens]
olfactory receptor 6C3 isoform 1 [Homo sapiens]gi|1934971173|ref|NP_001375427.1|Protein
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Last Updated: Sep 16, 2024