NM_003896.4(ST3GAL5):c.64del (p.Ala22fs) AND GM3 synthase deficiency
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 18, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003613633.2
Allele description [Variation Report for NM_003896.4(ST3GAL5):c.64del (p.Ala22fs)]
NM_003896.4(ST3GAL5):c.64del (p.Ala22fs)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024