chr19:15192033:T>C Detail (hg38) (NOTCH3)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:15,302,844-15,302,844 View the variant detail on this assembly version. |
| hg38 | chr19:15,192,033-15,192,033 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000435.2:c.606A>G | NP_000426.2:p.Ala202= |
| Ensemble | ENST00000263388.7:c.606A>G | ENST00000263388.7:p.Ala202= |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.881 |
| ToMMo:0.893 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.867 |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
criteria provided, single submitter | not specified |
germline
|
Detail | |
|
Benign
|
2021-09-05 | criteria provided, multiple submitters, no conflicts | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 |
germline
|
Detail |
|
Benign
|
2024-02-01 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Benign
|
2021-09-05 | criteria provided, single submitter | lateral meningocele syndrome |
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_000435.3(NOTCH3):c.606A>G (p.Ala202=) AND not specified | ClinVar | Detail |
| NM_000435.3(NOTCH3):c.606A>G (p.Ala202=) AND Cerebral arteriopathy, autosomal dominant, with subcort... | ClinVar | Detail |
| NM_000435.3(NOTCH3):c.606A>G (p.Ala202=) AND not provided | ClinVar | Detail |
| NM_000435.3(NOTCH3):c.606A>G (p.Ala202=) AND Lateral meningocele syndrome | 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
- rs1043994 dbSNP
- Genome
- hg38
- Position
- chr19:15,192,033-15,192,033
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1203
- Mean of sample read depth (HGVD)
- 68.31
- Standard deviation of sample read depth (HGVD)
- 37.21
- Number of reference allele (HGVD)
- 286
- Number of alternative allele (HGVD)
- 2120
- Allele Frequency (HGVD)
- 0.8811305070656692
- Gene Symbol (HGVD)
- NOTCH3
- 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))
- rs1043994
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.8931
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 14964
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16756
- East Asian Chromosome Counts (ExAC)
- 8624
- East Asian Allele Counts (ExAC)
- 7480
- East Asian Heterozygous Counts (ExAC)
- 1004
- East Asian Homozygous Counts (ExAC)
- 3238
- East Asian Allele Frequency (ExAC)
- 0.8673469387755102
- Chromosome Counts in All Race (ExAC)
- 120322
- Allele Counts in All Race (ExAC)
- 103251
- Heterozygous Counts in All Race (ExAC)
- 14187
- Homozygous Counts in All Race (ExAC)
- 44532
- Allele Frequency in All Race (ExAC)
- 0.8581223716361098
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