NM_005211.3(CSF1R):c.1766G>A (p.Gly589Glu) AND Hereditary diffuse leukoencephalopathy with spheroids

Clinical significance:Pathogenic (Last evaluated: Aug 30, 2012)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000031927.1

Allele description [Variation Report for NM_005211.3(CSF1R):c.1766G>A (p.Gly589Glu)]

NM_005211.3(CSF1R):c.1766G>A (p.Gly589Glu)

Gene:
CSF1R:colony stimulating factor 1 receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q32
Genomic location:
Preferred name:
NM_005211.3(CSF1R):c.1766G>A (p.Gly589Glu)
HGVS:
  • NC_000005.10:g.150061583C>T
  • NG_012303.1:g.56790G>A
  • NM_005211.3:c.1766G>A
  • NP_005202.2:p.Gly589Glu
  • NC_000005.9:g.149441146C>T
  • NR_109969.1:n.1979G>A
  • P07333:p.Gly589Glu
Protein change:
G589E
Links:
UniProtKB: P07333#VAR_067397; dbSNP: 281860268
NCBI 1000 Genomes Browser:
rs281860268
Molecular consequence:
  • NM_005211.3:c.1766G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_109969.1:n.1979G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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: C1857300; Orphanet: 313808; OMIM: 221820

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000054579GeneReviewsno assertion criteria providedpathologic
(Aug 30, 2012)
not providedcuration

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot providednot providednot providedliterature only

Details of each submission

From GeneReviews, SCV000054579.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Sep 14, 2017