NM_024306.5(FA2H):c.198G>C (p.Pro66=) AND Spastic paraplegia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 27, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000866770.9
Allele description [Variation Report for NM_024306.5(FA2H):c.198G>C (p.Pro66=)]
NM_024306.5(FA2H):c.198G>C (p.Pro66=)
Condition(s)
- Name:
- Spastic paraplegia
- Identifiers:
- MedGen: C0037772; Human Phenotype Ontology: HP:0001258
-
tight junction protein ZO-2a isoform X1 [Ctenopharyngodon idella]
tight junction protein ZO-2a isoform X1 [Ctenopharyngodon idella]gi|2326893203|ref|XP_051765598.1|Protein
-
PREDICTED: Homo sapiens uncharacterized lncRNA (LOC105373640), ncRNA
PREDICTED: Homo sapiens uncharacterized lncRNA (LOC105373640), ncRNAgi|1034618444|ref|XR_923371.2|Nucleotide
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Last Updated: Sep 29, 2024