NM_001034116.2(EIF2B4):c.1393T>C (p.Cys465Arg) AND Leukoencephalopathy with vanishing white matter 4
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jun 1, 2003
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003221397.10
Allele description [Variation Report for NM_001034116.2(EIF2B4):c.1393T>C (p.Cys465Arg)]
NM_001034116.2(EIF2B4):c.1393T>C (p.Cys465Arg)
Condition(s)
Assertion and evidence details
Last Updated: Oct 26, 2024