NM_001278116.2(L1CAM):c.550C>A (p.Arg184=) AND Spastic paraplegia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 21, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003752378.1
Allele description [Variation Report for NM_001278116.2(L1CAM):c.550C>A (p.Arg184=)]
NM_001278116.2(L1CAM):c.550C>A (p.Arg184=)
Condition(s)
- Name:
- Spastic paraplegia
- Identifiers:
- MedGen: C0037772; Human Phenotype Ontology: HP:0001258
-
Acrbp acrosin binding protein [Rattus norvegicus]
Acrbp acrosin binding protein [Rattus norvegicus]Gene ID:500316Gene
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024