NM_000169.3(GLA):c.858C>T (p.Leu286=) AND Fabry disease
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Aug 2, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000773679.9
Allele description [Variation Report for NM_000169.3(GLA):c.858C>T (p.Leu286=)]
NM_000169.3(GLA):c.858C>T (p.Leu286=)
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 WSC domain containing 1, mRNA (cDNA clone MGC:55022 IMAGE:4504495),...
Mus musculus WSC domain containing 1, mRNA (cDNA clone MGC:55022 IMAGE:4504495), complete cdsgi|28981330|gb|BC048831.1|Nucleotide
-
Expressed sequence AI480653 [Mus musculus]
Expressed sequence AI480653 [Mus musculus]gi|21594165|gb|AAH31419.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024