NM_000404.4(GLB1):c.2016A>G (p.Ser672=) AND GM1 gangliosidosis
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001150009.4
Allele description [Variation Report for NM_000404.4(GLB1):c.2016A>G (p.Ser672=)]
NM_000404.4(GLB1):c.2016A>G (p.Ser672=)
Condition(s)
- Name:
- GM1 gangliosidosis
- Synonyms:
- Beta galactosidase 1 deficiency; GLB 1 deficiency
- Identifiers:
- MONDO: MONDO:0018149; MedGen: C0085131
Assertion and evidence details
Last Updated: Oct 20, 2024