NM_004984.4(KIF5A):c.872C>T (p.Ser291Phe) AND Spastic paraplegia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001209948.7
Allele description [Variation Report for NM_004984.4(KIF5A):c.872C>T (p.Ser291Phe)]
NM_004984.4(KIF5A):c.872C>T (p.Ser291Phe)
Condition(s)
- Name:
- Spastic paraplegia
- Identifiers:
- MedGen: C0037772; Human Phenotype Ontology: HP:0001258
-
retinoic acid receptor gamma isoform 5 [Homo sapiens]
retinoic acid receptor gamma isoform 5 [Homo sapiens]gi|344030237|ref|NP_001230660.1|Protein
-
nucleoside diphosphate phosphatase ENTPD5 isoform 1 precursor [Homo sapiens]
nucleoside diphosphate phosphatase ENTPD5 isoform 1 precursor [Homo sapiens]gi|4557427|ref|NP_001240.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024