chr2:47600959:G>A Detail (hg19) (EPCAM)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr2:47,600,959-47,600,959 |
hg38 | chr2:47,373,820-47,373,820 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_002354.2:c.197G>A | NP_002345.2:p.Cys66Tyr |
Ensemble | ENST00000263735.9:c.197G>A | ENST00000263735.9:p.Cys66Tyr |
ENST00000405271.5:c.281G>A | ENST00000405271.5:p.Cys94Tyr |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2013-07-01 | no assertion criteria provided | congenital diarrhea 5 with tufting enteropathy |
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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.197G>A (p.Cys66Tyr) AND Congenital diarrhea 5 with tufting enteropathy | 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
- rs267606785 dbSNP
- Genome
- hg19
- Position
- chr2:47,600,959-47,600,959
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser