NM_005211.3(CSF1R):c.2345G>A (p.Arg782His) AND Hereditary diffuse leukoencephalopathy with spheroids
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Mar 12, 2013
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000031932.4
Allele description
NM_005211.3(CSF1R):c.2345G>A (p.Arg782His)
Condition(s)
- Name:
- Hereditary diffuse leukoencephalopathy with spheroids (HDLS)
- Synonyms:
- DEMENTIA, FAMILIAL, NEUMANN TYPE; SUBCORTICAL GLIOSIS OF NEUMANN; Gliosis, familial progressive subcortical; See all synonyms [MedGen]
- Identifiers:
- Gene: 8156; MedGen: C3711381; Orphanet: 313808; OMIM: 221820
Assertion and evidence details
Last Updated: Jul 21, 2018