chr16:50745929:C>G Detail (hg19) (NOD2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr16:50,745,929-50,745,929 |
| hg38 | chr16:50,712,018-50,712,018 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001293557.1:c.2107C>G | NP_001280486.1:p.Arg703Gly |
| NM_022162.2:c.2107C>G | NP_071445.1:p.Arg703Gly | |
| Ensemble | ENST00000300589.6:c.2107C>G | ENST00000300589.6:p.Arg703Gly |
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 |
Uncertain significance
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Uncertain significance
|
2019-06-11 | criteria provided, single submitter | Blau syndrome,inflammatory bowel disease 1 |
germline
|
Detail |
|
Uncertain significance
|
2019-06-11 | criteria provided, single submitter | Blau syndrome,inflammatory bowel disease 1 |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.028 | Ileal Diseases | These results confirm that variant NOD2/CARD15 (R702W, R703C and 3020insC) allel... | BeFree | 15770725 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_001370466.1(NOD2):c.2026C>G (p.Arg676Gly) AND multiple conditions | ClinVar | Detail |
| NM_001370466.1(NOD2):c.2026C>G (p.Arg676Gly) AND multiple conditions | ClinVar | Detail |
| These results confirm that variant NOD2/CARD15 (R702W, R703C and 3020insC) alleles are associated wi... | 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
- rs5743277 dbSNP
- Genome
- hg19
- Position
- chr16:50,745,929-50,745,929
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
- East Asian Chromosome Counts (ExAC)
- 8564
- 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)
- 118864
- Allele Counts in All Race (ExAC)
- 3
- Heterozygous Counts in All Race (ExAC)
- 3
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 2.523892852335442E-5
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