chr9:136499227:A>G Detail (hg38) (NOTCH1, LOC126860794)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr9:139,393,679-139,393,679 View the variant detail on this assembly version. |
| hg38 | chr9:136,499,227-136,499,227 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | ||
| Ensemble | ENST00000651671.1:c.5967T>C | ENST00000651671.1:p.Asp1989= |
| ENST00000680133.1:c.5853T>C | ENST00000680133.1:p.Asp1951= |
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 |
Benign
Likely benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
2023-10-23 | criteria provided, multiple submitters, no conflicts | Adams-Oliver syndrome 5 |
germline
|
Detail |
|
Likely benign
|
2021-11-04 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Benign
|
2022-03-15 | criteria provided, single submitter | aortic valve disease 1 |
germline
|
Detail |
|
Likely benign
|
2015-09-09 | criteria provided, single submitter | Familial thoracic aortic aneurysm and aortic dissection |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_017617.5(NOTCH1):c.5967T>C (p.Asp1989=) AND Adams-Oliver syndrome 5 | ClinVar | Detail |
| NM_017617.5(NOTCH1):c.5967T>C (p.Asp1989=) AND not provided | ClinVar | Detail |
| NM_017617.5(NOTCH1):c.5967T>C (p.Asp1989=) AND Aortic valve disease 1 | ClinVar | Detail |
| NM_017617.5(NOTCH1):c.5967T>C (p.Asp1989=) AND Familial thoracic aortic aneurysm and aortic dissecti... | 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
- rs73668311 dbSNP
- Genome
- hg38
- Position
- chr9:136,499,227-136,499,227
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- East Asian Chromosome Counts (ExAC)
- 8604
- 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)
- 119082
- Allele Counts in All Race (ExAC)
- 14
- Heterozygous Counts in All Race (ExAC)
- 14
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 1.1756604692564788E-4
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