chr9:136504677:G>A Detail (hg38) (NOTCH1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr9:139,399,129-139,399,129 View the variant detail on this assembly version. |
| hg38 | chr9:136,504,677-136,504,677 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | ||
| Ensemble | ENST00000651671.1:c.5014C>T | ENST00000651671.1:p.Arg1672Cys |
| ENST00000680133.1:c.4900C>T | ENST00000680133.1:p.Arg1634Cys |
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 | Conflicting classifications of pathogenicity |
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Uncertain significance
|
2015-02-27 | criteria provided, single submitter | Familial thoracic aortic aneurysm and aortic dissection,aortic valve disease 1 |
germline
|
Detail |
|
Uncertain significance
|
2015-02-27 | criteria provided, single submitter | Familial thoracic aortic aneurysm and aortic dissection,aortic valve disease 1 |
germline
|
Detail |
Benign
|
2022-09-06 | criteria provided, single submitter | Adams-Oliver syndrome 5 |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_017617.5(NOTCH1):c.5014C>T (p.Arg1672Cys) AND multiple conditions | ClinVar | Detail |
| NM_017617.5(NOTCH1):c.5014C>T (p.Arg1672Cys) AND multiple conditions | ClinVar | Detail |
| NM_017617.5(NOTCH1):c.5014C>T (p.Arg1672Cys) AND Adams-Oliver syndrome 5 | ClinVar | 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
- rs745901158 dbSNP
- Genome
- hg38
- Position
- chr9:136,504,677-136,504,677
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 204
- 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)
- 3746
- 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)
- 2.6695141484249865E-4
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