NM_000169.3(GLA):c.591C>T (p.Ser197=) AND Fabry disease
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Sep 28, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000475938.13
Allele description [Variation Report for NM_000169.3(GLA):c.591C>T (p.Ser197=)]
NM_000169.3(GLA):c.591C>T (p.Ser197=)
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
-
Drosophila melanogaster chitinase 12 (Cht12), mRNA
Drosophila melanogaster chitinase 12 (Cht12), mRNAgi|320544194|ref|NM_166420.2|Nucleotide
-
Homo sapiens mRNA for FLJ00001 protein, partial cds
Homo sapiens mRNA for FLJ00001 protein, partial cdsgi|7209302|dbj|AK000001.1|Nucleotide
-
Primary peritoneal serous/papillary carcinoma
Primary peritoneal serous/papillary carcinomaMedGen
-
C1368918[conceptid] (1)
MedGen
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024