NM_000169.3(GLA):c.274G>C (p.Asp92His) AND Fabry disease
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 22, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001553582.2
Allele description [Variation Report for NM_000169.3(GLA):c.274G>C (p.Asp92His)]
NM_000169.3(GLA):c.274G>C (p.Asp92His)
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
-
glycogen debranching enzyme isoform X3 [Apteryx rowi]
glycogen debranching enzyme isoform X3 [Apteryx rowi]gi|1444474949|ref|XP_025913461.1|Protein
-
AGENCOURT_6644654 NIH_MGC_122 Homo sapiens cDNA clone IMAGE:5766967 5', mRNA seq...
AGENCOURT_6644654 NIH_MGC_122 Homo sapiens cDNA clone IMAGE:5766967 5', mRNA sequencegi|19376946|gnl|dbEST|11609996|gb|B 67.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 16, 2024