NM_014363.6(SACS):c.9947A>C (p.Gln3316Pro) AND Spastic paraplegia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 18, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001247263.3
Allele description [Variation Report for NM_014363.6(SACS):c.9947A>C (p.Gln3316Pro)]
NM_014363.6(SACS):c.9947A>C (p.Gln3316Pro)
Condition(s)
- Name:
- Spastic paraplegia
- Identifiers:
- MedGen: C0037772; Human Phenotype Ontology: HP:0001258
-
Rattus norvegicus NPL4 homolog, ubiquitin recognition factor (Nploc4), mRNA
Rattus norvegicus NPL4 homolog, ubiquitin recognition factor (Nploc4), mRNAgi|75832140|ref|NM_080577.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024