NM_001244008.2(KIF1A):c.206C>T (p.Ser69Leu) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 20, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000693147.11
Allele description [Variation Report for NM_001244008.2(KIF1A):c.206C>T (p.Ser69Leu)]
NM_001244008.2(KIF1A):c.206C>T (p.Ser69Leu)
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: Oct 20, 2024