NM_015346.4(ZFYVE26):c.4350C>T (p.Val1450=) AND Spastic paraplegia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 23, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001417974.14
Allele description [Variation Report for NM_015346.4(ZFYVE26):c.4350C>T (p.Val1450=)]
NM_015346.4(ZFYVE26):c.4350C>T (p.Val1450=)
Condition(s)
- Name:
- Spastic paraplegia
- Identifiers:
- MedGen: C0037772; Human Phenotype Ontology: HP:0001258
-
synaptojanin 1 isoform a [Homo sapiens]
synaptojanin 1 isoform a [Homo sapiens]gi|44921606|ref|NP_003886.2|Protein
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Last Updated: Oct 26, 2024