NM_000435.3(NOTCH3):c.2149C>T (p.Arg717Cys) AND Vascular dementia

Clinical significance:Uncertain significance (Last evaluated: Apr 1, 2020)

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:
RCV001263185.1

Allele description [Variation Report for NM_000435.3(NOTCH3):c.2149C>T (p.Arg717Cys)]

NM_000435.3(NOTCH3):c.2149C>T (p.Arg717Cys)

Gene:
NOTCH3:notch receptor 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.12
Genomic location:
Preferred name:
NM_000435.3(NOTCH3):c.2149C>T (p.Arg717Cys)
HGVS:
  • NC_000019.10:g.15185404G>A
  • NG_009819.1:g.20578C>T
  • NM_000435.3:c.2149C>TMANE SELECT
  • NP_000426.2:p.Arg717Cys
  • NC_000019.9:g.15296215G>A
  • NM_000435.2:c.2149C>T
Protein change:
R717C
Links:
dbSNP: rs144163298
NCBI 1000 Genomes Browser:
rs144163298
Molecular consequence:
  • NM_000435.3:c.2149C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Vascular dementia
Identifiers:
MONDO: MONDO:0004648; MedGen: C0011269

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001250697Myllykangas group,University of Helsinkino assertion criteria providedUncertain significance
(Apr 1, 2020)
germlineresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Myllykangas group,University of Helsinki, SCV001250697.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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