chr2:47378939:A>C Detail (hg38) (EPCAM)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:47,606,078-47,606,078 View the variant detail on this assembly version. |
| hg38 | chr2:47,378,939-47,378,939 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_002354.2:c.556-14A>C | |
| Ensemble | ENST00000263735.9:c.556-14A>C | |
| ENST00000405271.5:c.640-14A>C |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Likely benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely benign
|
2024-01-12 | criteria provided, single submitter | not provided |
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.556-14A>C AND not provided | ClinVar | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs376155665 dbSNP
- Genome
- hg38
- Position
- chr2:47,378,939-47,378,939
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
Genome browser