chr19:15192242:G>A Detail (hg38) (NOTCH3)

Information

Genome

Assembly Position
hg19 chr19:15,303,053-15,303,053 View the variant detail on this assembly version.
hg38 chr19:15,192,242-15,192,242

HGVS

Type Transcript Protein
RefSeq NM_000435.2:c.397C>T NP_000426.2:p.Arg133Cys
Ensemble ENST00000263388.7:c.397C>T ENST00000263388.7:p.Arg133Cys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 600276 OMIM
HGNC 7883 HGNC
Ensembl ENSG00000074181 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2021-10-01 criteria provided, multiple submitters, no conflicts Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 germline unknown Detail
Likely pathogenic 2013-11-28 criteria provided, single submitter unknown Detail
Pathogenic 2023-12-01 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2020-04-27 criteria provided, single submitter Myofibromatosis, infantile, 2,lateral meningocele syndrome,Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 germline Detail
Pathogenic 2020-04-27 criteria provided, single submitter Myofibromatosis, infantile, 2,lateral meningocele syndrome,Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 germline Detail
Pathogenic 2020-04-27 criteria provided, single submitter Myofibromatosis, infantile, 2,lateral meningocele syndrome,Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 germline Detail
Pathogenic 2023-02-03 criteria provided, single submitter NOTCH3-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Hemiparesis Based on a structured questionnaire and medical records, the authors found that ... BeFree 15851739 Detail
<0.001 Neurologic Symptoms Based on a structured questionnaire and medical records, the authors found that ... BeFree 15851739 Detail
0.537 CADASIL Syndrome We have previously described a patient with CADASIL caused by a R133C mutation i... BeFree 16807713 Detail
0.001 myopathy We have previously described a patient with cerebral autosomal-dominant arteriop... BeFree 17276737 Detail
<0.001 aphasia Based on a structured questionnaire and medical records, the authors found that ... BeFree 15851739 Detail
0.537 CADASIL Syndrome Based on a structured questionnaire and medical records, the authors found that ... BeFree 15851739 Detail
0.537 CADASIL Syndrome The aim of this study was to characterize cognitive function in subjects with a ... BeFree 15143298 Detail
0.013 Cerebrovascular accident Thirty-eight CADASIL patients (19 to 61 years old; 20 in a prestroke group, 15 i... BeFree 16877080 Detail
0.001 myopathy We have previously described a patient with CADASIL caused by a R133C mutation i... BeFree 16807713 Detail
0.537 CADASIL Syndrome Arg133Cys mutation of Notch3 in two unrelated Japanese families with CADASIL. BeFree 10969905 Detail
0.537 CADASIL Syndrome We have previously described a patient with cerebral autosomal-dominant arteriop... BeFree 17276737 Detail
0.537 CADASIL Syndrome To verify whether true stenosis of the fibrotic white matter arteries is a key p... BeFree 15605982 Detail
0.005 Presenile dementia Thirty-eight CADASIL patients (19 to 61 years old; 20 in a prestroke group, 15 i... BeFree 16877080 Detail
0.537 CADASIL Syndrome Phenotype of a homozygous CADASIL patient in comparison to 9 age-matched heteroz... BeFree 11486103 Detail
0.005 dementia Thirty-eight CADASIL patients (19 to 61 years old; 20 in a prestroke group, 15 i... BeFree 16877080 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys) AND Cerebral arteriopathy, autosomal dominant, with subco... ClinVar Detail
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys) AND Recurrent subcortical infarcts ClinVar Detail
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys) AND not provided ClinVar Detail
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys) AND multiple conditions ClinVar Detail
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys) AND multiple conditions ClinVar Detail
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys) AND multiple conditions ClinVar Detail
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys) AND NOTCH3-related disorder ClinVar Detail
Based on a structured questionnaire and medical records, the authors found that 12 of 25 mothers wit... DisGeNET Detail
Based on a structured questionnaire and medical records, the authors found that 12 of 25 mothers wit... DisGeNET Detail
We have previously described a patient with CADASIL caused by a R133C mutation in the NOTCH3 gene an... DisGeNET Detail
We have previously described a patient with cerebral autosomal-dominant arteriopathy with subcortica... DisGeNET Detail
Based on a structured questionnaire and medical records, the authors found that 12 of 25 mothers wit... DisGeNET Detail
Based on a structured questionnaire and medical records, the authors found that 12 of 25 mothers wit... DisGeNET Detail
The aim of this study was to characterize cognitive function in subjects with a C475T (R133C) mutati... DisGeNET Detail
Thirty-eight CADASIL patients (19 to 61 years old; 20 in a prestroke group, 15 in a stroke group, an... DisGeNET Detail
We have previously described a patient with CADASIL caused by a R133C mutation in the NOTCH3 gene an... DisGeNET Detail
Arg133Cys mutation of Notch3 in two unrelated Japanese families with CADASIL. DisGeNET Detail
We have previously described a patient with cerebral autosomal-dominant arteriopathy with subcortica... DisGeNET Detail
To verify whether true stenosis of the fibrotic white matter arteries is a key pathogenic event in C... DisGeNET Detail
Thirty-eight CADASIL patients (19 to 61 years old; 20 in a prestroke group, 15 in a stroke group, an... DisGeNET Detail
Phenotype of a homozygous CADASIL patient in comparison to 9 age-matched heterozygous patients with ... DisGeNET Detail
Thirty-eight CADASIL patients (19 to 61 years old; 20 in a prestroke group, 15 in a stroke group, an... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs137852642 dbSNP
Genome
hg38
Position
chr19:15,192,242-15,192,242
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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