NM_001244008.2(KIF1A):c.864+16C>T AND multiple conditions
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Feb 1, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001520956.6
Allele description [Variation Report for NM_001244008.2(KIF1A):c.864+16C>T]
NM_001244008.2(KIF1A):c.864+16C>T
Condition(s)
- Name:
- Hereditary spastic paraplegia 30
- Synonyms:
- Spastic paraplegia 30, autosomal recessive; SPASTIC PARAPLEGIA 30A, AUTOSOMAL DOMINANT
- Identifiers:
- MONDO: MONDO:0012476; MedGen: C5235139; Orphanet: 101010; OMIM: 610357
Assertion and evidence details
Last Updated: Aug 18, 2024