chr18:48575659:A>G Detail (hg19) (SMAD4)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr18:48,575,659-48,575,659 |
| hg38 | chr18:51,049,289-51,049,289 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_005359.5:c.425-6A>G | |
| Ensemble | ENST00000342988.8:c.425-6A>G | |
| ENST00000398417.6:c.425-6A>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
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
|
2017-12-04 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Uncertain significance
|
2020-03-18 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome,Familial thoracic aortic aneurysm and aortic dissection |
germline
|
Detail |
|
Uncertain significance
|
2020-03-18 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome,Familial thoracic aortic aneurysm and aortic dissection |
germline
|
Detail |
Likely pathogenic
|
2023-12-22 | criteria provided, single submitter | juvenile polyposis syndrome |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.588 | juvenile polyposis syndrome | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_005359.6(SMAD4):c.425-6A>G AND not provided | ClinVar | Detail |
| NM_005359.6(SMAD4):c.425-6A>G AND multiple conditions | ClinVar | Detail |
| NM_005359.6(SMAD4):c.425-6A>G AND multiple conditions | ClinVar | Detail |
| NM_005359.6(SMAD4):c.425-6A>G AND Juvenile polyposis syndrome | ClinVar | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs377767327 dbSNP
- Genome
- hg19
- Position
- chr18:48,575,659-48,575,659
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
Genome browser