NM_152722.5(HEPACAM):c.971A>G (p.Asn324Ser) AND Megalencephalic leukoencephalopathy with subcortical cysts
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000268154.5
Allele description [Variation Report for NM_152722.5(HEPACAM):c.971A>G (p.Asn324Ser)]
NM_152722.5(HEPACAM):c.971A>G (p.Asn324Ser)
Condition(s)
- Name:
- Megalencephalic leukoencephalopathy with subcortical cysts
- Synonyms:
- VAN DER KNAAP DISEASE
- Identifiers:
- MONDO: MONDO:0011391; MedGen: C1858854
Assertion and evidence details
Last Updated: Mar 10, 2024