NM_005211.3(CSF1R):c.2546T>C (p.Phe849Ser) AND Gliosis, familial progressive subcortical

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

Review status:1 star out of maximum of 4 stars

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000031934.1

Allele description [Variation Report for NM_005211.3(CSF1R):c.2546T>C (p.Phe849Ser)]

Gene:
CSF1R:colony stimulating factor 1 receptor [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
5q32
Genomic location:
Preferred name:
NM_005211.3(CSF1R):c.2546T>C (p.Phe849Ser)
HGVS:
  • NC_000005.10:g.150056034A>G
  • NG_012303.1:g.62339T>C
  • NM_005211.3:c.2546T>C
  • NP_005202.2:p.Phe849Ser
  • NC_000005.9:g.149435597A>G
Protein change:
F849S
Links:
dbSNP: 281860277
NCBI 1000 Genomes Browser:
rs281860277
Molecular consequence:
  • NR_109969.1:n.2596T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_005211.3:c.2546T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Gliosis, familial progressive subcortical (GPSC)
Synonyms:
DEMENTIA, FAMILIAL, NEUMANN TYPE; SUBCORTICAL GLIOSIS OF NEUMANN; LEUKOENCEPHALOPATHY WITH NEUROAXONAL SPHEROIDS, AUTOSOMAL DOMINANT; See all synonyms [MedGen]
Identifiers:
Gene: 8156; MedGen: C1857300; Orphanet: 313808; OMIM: 221820
Age of onset:
Adulthood
Prevalence:
<1 / 1 000 000 313808

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Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000054588GeneReviewspathologic
(Aug 30, 2012)
not providedliterature only

Summary from all submissions

EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot providednot providednot providedliterature only

Details of each submission

From GeneReviews, SCV000054588.1

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Jan 13, 2015

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