chr19:15303053:G>T Detail (hg19) (NOTCH3)

Information

Genome

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

HGVS

Type Transcript Protein
RefSeq NM_000435.2:c.397C>A NP_000426.2:p.Arg133Ser
Ensemble ENST00000263388.7:c.397C>A ENST00000263388.7:p.Arg133Ser
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
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
[No Data.]
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
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
-
Genome
hg19
Position
chr19:15,303,053-15,303,053
Variant Type
snv
Reference Allele
G
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
5340
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
79928
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.2511260134120709E-5
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