NM_000169.3(GLA):c.840A>G (p.Gln280=) AND Fabry disease
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 30, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003621782.1
Allele description [Variation Report for NM_000169.3(GLA):c.840A>G (p.Gln280=)]
NM_000169.3(GLA):c.840A>G (p.Gln280=)
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 tubulin, delta 1 (Tubd1), transcript variant 4, mRNA
Mus musculus tubulin, delta 1 (Tubd1), transcript variant 4, mRNAgi|312261241|ref|NM_001199047.1|Nucleotide
-
kinesin-like protein KIF3C [Rattus norvegicus]
kinesin-like protein KIF3C [Rattus norvegicus]gi|16758244|ref|NP_445938.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 16, 2024