NM_004984.4(KIF5A):c.839G>A (p.Arg280His) AND Hereditary spastic paraplegia 10
- Germline classification:
- Pathogenic (2 submissions)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000030761.14
Allele description [Variation Report for NM_004984.4(KIF5A):c.839G>A (p.Arg280His)]
NM_004984.4(KIF5A):c.839G>A (p.Arg280His)
Condition(s)
- Name:
- Hereditary spastic paraplegia 10 (SPG10)
- Synonyms:
- SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT; Spastic paraplegia 10; SPASTIC PARAPLEGIA 10 WITH OR WITHOUT PERIPHERAL NEUROPATHY; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011408; MedGen: C1858712; Orphanet: 100991; OMIM: 604187
Assertion and evidence details
Last Updated: Mar 23, 2024