chr2:47375300:G>A Detail (hg38) (EPCAM)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:47,602,439-47,602,439 View the variant detail on this assembly version. |
| hg38 | chr2:47,375,300-47,375,300 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_002354.2:c.491+1G>A | |
| Ensemble | ENST00000405271.5:c.575+1G>A | |
| ENST00000263735.9:c.491+1G>A |
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 |
Pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2013-07-01 | no assertion criteria provided | congenital diarrhea 5 with tufting enteropathy |
germline
|
Detail |
|
Pathogenic
|
2021-07-01 | no assertion criteria provided | Gastric cancer |
germline
|
Detail |
|
Pathogenic
|
2021-09-06 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.562 | DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_002354.3(EPCAM):c.491+1G>A AND Congenital diarrhea 5 with tufting enteropathy | ClinVar | Detail |
| NM_002354.3(EPCAM):c.491+1G>A AND Gastric cancer | ClinVar | Detail |
| NM_002354.3(EPCAM):c.491+1G>A AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs606231203 dbSNP
- Genome
- hg38
- Position
- chr2:47,375,300-47,375,300
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8598
- East Asian Allele Counts (ExAC)
- 1
- East Asian Heterozygous Counts (ExAC)
- 1
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 1.1630611770179111E-4
- Chromosome Counts in All Race (ExAC)
- 120174
- Allele Counts in All Race (ExAC)
- 7
- Heterozygous Counts in All Race (ExAC)
- 7
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 5.824887246825436E-5
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