NM_014363.6(SACS):c.9762T>A (p.Ser3254=) AND Spastic paraplegia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 21, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001462750.7
Allele description [Variation Report for NM_014363.6(SACS):c.9762T>A (p.Ser3254=)]
NM_014363.6(SACS):c.9762T>A (p.Ser3254=)
Condition(s)
- Name:
- Spastic paraplegia
- Identifiers:
- MedGen: C0037772; Human Phenotype Ontology: HP:0001258
-
ATP synthase beta subunit, partial [Kluyvera intermedia]
ATP synthase beta subunit, partial [Kluyvera intermedia]gi|490432864|gb|AGL12396.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024