chr7:30452303:C>T Detail (hg38) (NOD1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:30,491,919-30,491,919 View the variant detail on this assembly version. |
| hg38 | chr7:30,452,303-30,452,303 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_006092.2:c.1114G>A | NP_006083.1:p.Asp372Asn |
| Ensemble | ENST00000222823.9:c.1114G>A | ENST00000222823.9:p.Asp372Asn |
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 |
Benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
2018-01-11 | criteria provided, single submitter | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.014 | Inflammatory Bowel Diseases | The aim of this study was to investigate polymorphisms in the NOD2/CARD15 (R702W... | BeFree | 16741608 | Detail |
| 0.397 | Inflammatory Bowel Diseases | The aim of this study was to investigate polymorphisms in the NOD2/CARD15 (R702W... | BeFree | 16741608 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_006092.4(NOD1):c.1114G>A (p.Asp372Asn) AND not provided | ClinVar | Detail |
| The aim of this study was to investigate polymorphisms in the NOD2/CARD15 (R702W, G908R, and 3020ins... | DisGeNET | Detail |
| The aim of this study was to investigate polymorphisms in the NOD2/CARD15 (R702W, G908R, and 3020ins... | 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
- rs5743342 dbSNP
- Genome
- hg38
- Position
- chr7:30,452,303-30,452,303
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8606
- 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)
- 119758
- Allele Counts in All Race (ExAC)
- 492
- Heterozygous Counts in All Race (ExAC)
- 480
- Homozygous Counts in All Race (ExAC)
- 6
- Allele Frequency in All Race (ExAC)
- 0.004108285041500359
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