NM_001244008.2(KIF1A):c.37C>T (p.Arg13Cys) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 27, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001057550.8
Allele description [Variation Report for NM_001244008.2(KIF1A):c.37C>T (p.Arg13Cys)]
NM_001244008.2(KIF1A):c.37C>T (p.Arg13Cys)
Condition(s)
- Name:
- Hereditary spastic paraplegia 30
- Synonyms:
- Spastic paraplegia 30, autosomal recessive; SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT
- Identifiers:
- MONDO: MONDO:0012476; MedGen: C5235139; Orphanet: 101010; OMIM: 610357
Assertion and evidence details
Last Updated: May 12, 2024