chr9:139390397:C>T Detail (hg19) (NOTCH1)

Information

Genome

Assembly Position
hg19 chr9:139,390,397-139,390,397
hg38 chr9:136,495,945-136,495,945 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000651671.1:c.*126G>A
ENST00000680133.1:c.*126G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.867
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 190198 OMIM
HGNC 7881 HGNC
Ensembl ENSG00000148400 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv37991636 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-06-14 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Invasive Ductal Breast Carcinoma A total of 100 invasive ductal carcinoma (IDC) and 50 ductal carcinoma in situ (... BeFree 25120811 Detail
<0.001 Noninfiltrating Intraductal Carcinoma A total of 100 invasive ductal carcinoma (IDC) and 50 ductal carcinoma in situ (... BeFree 25120811 Detail
<0.001 Noninfiltrating Intraductal Carcinoma A total of 100 invasive ductal carcinoma (IDC) and 50 ductal carcinoma in situ (... BeFree 25120811 Detail
<0.001 Noninfiltrating Intraductal Carcinoma A total of 100 invasive ductal carcinoma (IDC) and 50 ductal carcinoma in situ (... BeFree 25120811 Detail
<0.001 Invasive Ductal Breast Carcinoma A total of 100 invasive ductal carcinoma (IDC) and 50 ductal carcinoma in situ (... BeFree 25120811 Detail
<0.001 Invasive Ductal Breast Carcinoma A total of 100 invasive ductal carcinoma (IDC) and 50 ductal carcinoma in situ (... BeFree 25120811 Detail
0.011 breast carcinoma Furthermore, given the inconsistent associations between the rs3124591 variant a... BeFree 25120811 Detail
<0.001 Noninfiltrating Intraductal Carcinoma Furthermore, given the inconsistent associations between the rs3124591 variant a... BeFree 25120811 Detail
0.011 Malignant neoplasm of breast Furthermore, given the inconsistent associations between the rs3124591 variant a... BeFree 25120811 Detail
<0.001 Cardiomyopathy, Familial Idiopathic Furthermore, given the inconsistent associations between the rs3124591 variant a... BeFree 25120811 Detail
<0.001 Invasive Ductal Breast Carcinoma Notch1 single nucleotide polymorphism rs3124591 is associated with the risk of d... BeFree 25120811 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_017617.5(NOTCH1):c.*126G>A AND not provided ClinVar Detail
A total of 100 invasive ductal carcinoma (IDC) and 50 ductal carcinoma in situ (DCIS) patients and 1... DisGeNET Detail
A total of 100 invasive ductal carcinoma (IDC) and 50 ductal carcinoma in situ (DCIS) patients and 1... DisGeNET Detail
A total of 100 invasive ductal carcinoma (IDC) and 50 ductal carcinoma in situ (DCIS) patients and 1... DisGeNET Detail
A total of 100 invasive ductal carcinoma (IDC) and 50 ductal carcinoma in situ (DCIS) patients and 1... DisGeNET Detail
A total of 100 invasive ductal carcinoma (IDC) and 50 ductal carcinoma in situ (DCIS) patients and 1... DisGeNET Detail
A total of 100 invasive ductal carcinoma (IDC) and 50 ductal carcinoma in situ (DCIS) patients and 1... DisGeNET Detail
Furthermore, given the inconsistent associations between the rs3124591 variant and Notch1 expression... DisGeNET Detail
Furthermore, given the inconsistent associations between the rs3124591 variant and Notch1 expression... DisGeNET Detail
Furthermore, given the inconsistent associations between the rs3124591 variant and Notch1 expression... DisGeNET Detail
Furthermore, given the inconsistent associations between the rs3124591 variant and Notch1 expression... DisGeNET Detail
Notch1 single nucleotide polymorphism rs3124591 is associated with the risk of development of invasi... 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
rs3124591 dbSNP
Genome
hg19
Position
chr9:139,390,397-139,390,397
Variant Type
snv
Reference Allele
C
Alternative Allele
T
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs3124591
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.8667
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
14526
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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