NM_000157.4(GBA1):c.1448T>G (p.Leu483Arg) AND multiple conditions
- Germline classification:
- Likely pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001004111.1
Allele description [Variation Report for NM_000157.4(GBA1):c.1448T>G (p.Leu483Arg)]
NM_000157.4(GBA1):c.1448T>G (p.Leu483Arg)
Condition(s)
- Name:
- Gaucher disease type I (GD1)
- Synonyms:
- GBA DEFICIENCY; GD I; Gaucher's disease, type 1; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009265; MedGen: C1961835; Orphanet: 355; Orphanet: 77259; OMIM: 230800
- Name:
- Gaucher disease type II (GD2)
- Synonyms:
- GD II; Gaucher disease type 2; GD 2; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009266; MedGen: C0268250; OMIM: 230900
- Name:
- Gaucher disease type III
- Synonyms:
- GD III; GD 3; Gaucher disease, juvenile and adult, cerebral; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009267; MedGen: C0268251; Orphanet: 355; Orphanet: 77261; OMIM: 231000
Assertion and evidence details
Last Updated: Sep 29, 2024