NM_000435.3(NOTCH3):c.2149C>T (p.Arg717Cys) AND Inborn genetic diseases

Clinical significance:Uncertain significance (Last evaluated: Jun 19, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001266935.1

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]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001445116Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Jun 19, 2018)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Caucasiangermlineyes1not providednot provided1not providedclinical testing

Citations

PubMed

Characterization of CADASIL among the Han Chinese in Taiwan: Distinct Genotypic and Phenotypic Profiles.

Liao YC, Hsiao CT, Fuh JL, Chern CM, Lee WJ, Guo YC, Wang SJ, Lee IH, Liu YT, Wang YF, Chang FC, Chang MH, Soong BW, Lee YC.

PLoS One. 2015;10(8):e0136501. doi: 10.1371/journal.pone.0136501.

PubMed [citation]
PMID:
26308724
PMCID:
PMC4550240

Details of each submission

From Ambry Genetics, SCV001445116.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Nov 27, 2021

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