NM_024306.5(FA2H):c.363+3A>G AND Spastic paraplegia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 6, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002761470.3
Allele description [Variation Report for NM_024306.5(FA2H):c.363+3A>G]
NM_024306.5(FA2H):c.363+3A>G
Condition(s)
- Name:
- Spastic paraplegia
- Identifiers:
- MedGen: C0037772; Human Phenotype Ontology: HP:0001258
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RecName: Full=Transmembrane and ubiquitin-like domain-containing protein 1
RecName: Full=Transmembrane and ubiquitin-like domain-containing protein 1gi|82186174|sp|Q6P135.1|TMUB1_DANREProtein
-
zinc finger FYVE domain-containing protein 1 isoform X3 [Rattus norvegicus]
zinc finger FYVE domain-containing protein 1 isoform X3 [Rattus norvegicus]gi|2678950830|ref|XP_063117802.1|Protein
-
zinc finger FYVE domain-containing protein 1 isoform X1 [Rattus norvegicus]
zinc finger FYVE domain-containing protein 1 isoform X1 [Rattus norvegicus]gi|1958782519|ref|XP_038967953.1|Protein
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Last Updated: Sep 29, 2024