chr6:32188640:T>C Detail (hg19) (NOTCH4)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:32,188,640-32,188,640 |
| hg38 | chr6:32,220,863-32,220,863 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004557.3:c.815A>G | NP_004548.3:p.Asp272Gly |
| NR_134949.1:c.815A>G | ||
| NR_134950.1:c.815A>G |
Summary
MGeND
| Clinical significance |
not provided
|
| Variant entry | |
| GWAS entry | 288 |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.228 |
| ToMMo:0.214 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.140 |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
not provided
|
biliary cirrhosis, primary |
not provided
|
MGS000089
(TMGS000168) |
Minoru Nakamura Minoru Nakamura |
National Hospital Organization Nagasaki Medical Center National Hospital Organization Nagasaki Medical Center |
||||
|
not provided
|
hepatitis B |
MGS000002
(TMGS000002) |
Masashi Mizokami | National Center for Global Health and Medicine |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
2021-05-04 | 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 |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_004557.4(NOTCH4):c.815A>G (p.Asp272Gly) 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 |
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
- rs520692 dbSNP
- Genome
- hg19
- Position
- chr6:32,188,640-32,188,640
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1160
- Mean of sample read depth (HGVD)
- 108.31
- Standard deviation of sample read depth (HGVD)
- 53.52
- Number of reference allele (HGVD)
- 1790
- Number of alternative allele (HGVD)
- 530
- Allele Frequency (HGVD)
- 0.22844827586206898
- Gene Symbol (HGVD)
- NOTCH4
- 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))
- rs520692
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.214
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 3587
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8636
- East Asian Allele Counts (ExAC)
- 1210
- East Asian Heterozygous Counts (ExAC)
- 1048
- East Asian Homozygous Counts (ExAC)
- 81
- East Asian Allele Frequency (ExAC)
- 0.14011116257526632
- Chromosome Counts in All Race (ExAC)
- 120962
- Allele Counts in All Race (ExAC)
- 36991
- Heterozygous Counts in All Race (ExAC)
- 24829
- Homozygous Counts in All Race (ExAC)
- 6081
- Allele Frequency in All Race (ExAC)
- 0.30580678229526626
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