chr18:48581234:C>T Detail (hg19) (SMAD4)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr18:48,581,234-48,581,234 |
| hg38 | chr18:51,054,864-51,054,864 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_005359.5:c.538C>T | NP_005350.1:p.Gln180Ter |
| Ensemble | ENST00000398417.6:c.538C>T | ENST00000398417.6:p.Gln180Ter |
| ENST00000588745.5:c.538C>T | ENST00000588745.5:p.Gln180Ter |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
Carcinoma of pancreas (disorder) |
unknown
|
MGS000025
(TMGS000084) |
Manabu Muto | Kyoto University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2022-07-29 | 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.538C>T (p.Gln180Ter) AND Juvenile polyposis syndrome | ClinVar | Detail |
| NA | 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
- rs377767332 dbSNP
- Genome
- hg19
- Position
- chr18:48,581,234-48,581,234
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser