NM_001478.5(B4GALNT1):c.218+3G>A AND Spastic paraplegia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 16, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000633010.4
Allele description [Variation Report for NM_001478.5(B4GALNT1):c.218+3G>A]
NM_001478.5(B4GALNT1):c.218+3G>A
Condition(s)
- Name:
- Spastic paraplegia
- Identifiers:
- MedGen: C0037772; Human Phenotype Ontology: HP:0001258
Assertion and evidence details
Last Updated: Feb 20, 2024