NM_005211.3(CSF1R):c.2624T>C (p.Met875Thr)

Variation ID: Help
29810
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Aug 30, 2012
Number of submission(s):
2
Condition(s):
Hereditary diffuse leukoencephalopathy with spheroids[Gene - MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_005211.3(CSF1R):c.2624T>C (p.Met875Thr)

Allele ID:
38765
Variant type:
single nucleotide variant
Cytogenetic location:
5q32
Genomic location:
  • Chr5: 150055267 (on Assembly GRCh38)
  • Chr5: 149434830 (on Assembly GRCh37)
Protein change:
M875T
HGVS:
  • NG_012303.1:g.63106T>C
  • NM_005211.3:c.2624T>C
  • NP_005202.2:p.Met875Thr
  • NC_000005.10:g.150055267A>G (GRCh38)
  • NR_109969.1:n.2674T>C
  • NC_000005.9:g.149434830A>G (GRCh37)
  • P07333:p.Met875Thr
Links:
NCBI 1000 Genomes Browser:
rs281860279
Molecular consequence:
  • NM_005211.3:c.2624T>C: missense variant SO:0001583
  • NR_109969.1:n.2674T>C: non-coding transcript variant SO:0001619

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

Browser views

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Dec 25, 2011)
no assertion criteria providedliterature only
  • Hereditary diffuse leukoencephalopathy with spheroids[Gene | MedGen | OMIM]
germlineOMIMSCV000043973.3
Pathogenic
(Aug 30, 2012)
no assertion criteria providedliterature only
  • Hereditary diffuse leukoencephalopathy with spheroids[Gene | MedGen | OMIM]
not providedGeneReviewsSCV000054591.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Total for all submittersnot providednot providedgermline, not providednot providednot provided
GeneReviewsnot providednot providednot providednot providednot providedConverted during submission to…Full description
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Oct 7, 2017