NM_012062.5(DNM1L):c.1085G>A (p.Gly362Asp) AND Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
- Germline classification:
- Likely pathogenic (2 submissions)
- Last evaluated:
- Jan 1, 2015
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000239637.3
Allele description [Variation Report for NM_012062.5(DNM1L):c.1085G>A (p.Gly362Asp)]
NM_012062.5(DNM1L):c.1085G>A (p.Gly362Asp)
Condition(s)
Assertion and evidence details
Last Updated: Jun 23, 2024