NM_001244008.2(KIF1A):c.4998T>C (p.Pro1666=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 4, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001397517.6
Allele description [Variation Report for NM_001244008.2(KIF1A):c.4998T>C (p.Pro1666=)]
NM_001244008.2(KIF1A):c.4998T>C (p.Pro1666=)
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 7, 2024