chr11:48123636:C>T Detail (hg38) (PTPRJ)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:48,145,188-48,145,188 View the variant detail on this assembly version. |
| hg38 | chr11:48,123,636-48,123,636 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_002843.3:c.640C>T | NP_002834.3:p.Arg214Cys |
| NM_001098503.1:c.640C>T | NP_001091973.1:p.Arg214Cys | |
| Ensemble | ENST00000418331.7:c.640C>T | ENST00000418331.7:p.Arg214Cys |
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
|
2002-07-01 | no assertion criteria provided | Carcinoma of colon |
somatic
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.122 | colon carcinoma | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_002843.4(PTPRJ):c.640C>T (p.Arg214Cys) AND Carcinoma of colon | 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
- rs121434507 dbSNP
- Genome
- hg38
- Position
- chr11:48,123,636-48,123,636
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8620
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 121236
- Allele Counts in All Race (ExAC)
- 5
- Heterozygous Counts in All Race (ExAC)
- 5
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 4.124187535055594E-5
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