NM_000404.4(GLB1):c.395T>C (p.Met132Thr) AND Infantile GM1 gangliosidosis
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002249399.1
Allele description [Variation Report for NM_000404.4(GLB1):c.395T>C (p.Met132Thr)]
NM_000404.4(GLB1):c.395T>C (p.Met132Thr)
Condition(s)
- Name:
- Infantile GM1 gangliosidosis
- Synonyms:
- Gangliosidosis, Generalized GM1, Type 1; GM1 gangliosidosis type 1; GM1-gangliosidosis, type I; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009260; MedGen: C0268271; Orphanet: 354; OMIM: 230500
Assertion and evidence details
Last Updated: Jul 29, 2023