NM_014363.6(SACS):c.8911C>T (p.Gln2971Ter) AND Spastic paraplegia
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 24, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003752144.2
Allele description [Variation Report for NM_014363.6(SACS):c.8911C>T (p.Gln2971Ter)]
NM_014363.6(SACS):c.8911C>T (p.Gln2971Ter)
Condition(s)
- Name:
- Spastic paraplegia
- Identifiers:
- MedGen: C0037772; Human Phenotype Ontology: HP:0001258
-
Same Parent, Connectivity for PubChem Compound (Select 171703577) (9)
PubChem Compound
-
Parent Compound for PubChem Compound (Select 9578438) (1)
PubChem Compound
-
KIF27 kinesin family member 27 [Homo sapiens]
KIF27 kinesin family member 27 [Homo sapiens]Gene ID:55582Gene
-
Gene Links for Protein (Select 74750464) (1)
Gene
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024