NM_006517.5(SLC16A2):c.197A>G (p.Glu66Gly) AND Spastic paraplegia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 16, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003070527.3
Allele description [Variation Report for NM_006517.5(SLC16A2):c.197A>G (p.Glu66Gly)]
NM_006517.5(SLC16A2):c.197A>G (p.Glu66Gly)
Condition(s)
- Name:
- Spastic paraplegia
- Identifiers:
- MedGen: C0037772; Human Phenotype Ontology: HP:0001258
-
Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA
Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNAgi|1653962582|ref|NM_004991.4|Nucleotide
-
2B [Enterovirus A]
2B [Enterovirus A]gi|25121812|ref|NP_740531.1|Protein
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Last Updated: Sep 29, 2024