NM_014363.6(SACS):c.5935T>G (p.Phe1979Val) AND Spastic paraplegia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 6, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002571519.3
Allele description [Variation Report for NM_014363.6(SACS):c.5935T>G (p.Phe1979Val)]
NM_014363.6(SACS):c.5935T>G (p.Phe1979Val)
Condition(s)
- Name:
- Spastic paraplegia
- Identifiers:
- MedGen: C0037772; Human Phenotype Ontology: HP:0001258
-
PREDICTED: Mus musculus CXXC finger 5 (Cxxc5), transcript variant X4, mRNA
PREDICTED: Mus musculus CXXC finger 5 (Cxxc5), transcript variant X4, mRNAgi|1907130629|ref|XM_006526181.5|Nucleotide
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Last Updated: Sep 29, 2024