chr16:50711288:C>A Detail (hg38) (NOD2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr16:50,745,199-50,745,199 View the variant detail on this assembly version. |
| hg38 | chr16:50,711,288-50,711,288 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001293557.1:c.1377C>A | NP_001280486.1:p.Arg459= |
| NM_022162.2:c.1377C>A | NP_071445.1:p.Arg459= | |
| Ensemble | ENST00000300589.6:c.1377C>A | ENST00000300589.6:p.Arg459= |
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 | |
| Review star | [No Data.] |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.560 | Crohn Disease | The NOD2 single nucleotide polymorphisms rs2066843 and rs2076756 are novel and c... | BeFree | 21209938 | Detail |
| 0.002 | pathologic fistula | In CD patients homozygous for these novel NOD2 variants, genotype-phenotype anal... | BeFree | 21209938 | Detail |
| 0.234 | ulcerative colitis | Genomic DNA from 2700 Caucasians including 812 patients with Crohn's disease (CD... | BeFree | 21209938 | Detail |
| 0.397 | Inflammatory Bowel Diseases | The aims were to analyze two novel NOD2 variants (rs2066843 and rs2076756) in a ... | BeFree | 21209938 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| The NOD2 single nucleotide polymorphisms rs2066843 and rs2076756 are novel and common Crohn's diseas... | DisGeNET | Detail |
| In CD patients homozygous for these novel NOD2 variants, genotype-phenotype analysis revealed higher... | DisGeNET | Detail |
| Genomic DNA from 2700 Caucasians including 812 patients with Crohn's disease (CD), 442 patients with... | DisGeNET | Detail |
| The aims were to analyze two novel NOD2 variants (rs2066843 and rs2076756) in a large cohort of pati... | 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
- -
- Genome
- hg38
- Position
- chr16:50,711,288-50,711,288
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8602
- 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)
- 120126
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.324592511196577E-6
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