chr14:54957612:C>T Detail (hg38) (WDHD1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr14:55,424,330-55,424,330 View the variant detail on this assembly version. |
| hg38 | chr14:54,957,612-54,957,612 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_007086.3:c.2725G>A | NP_009017.1:p.Gly909Arg |
| NM_001008396.2:c.2356G>A | NP_001008397.1:p.Gly786Arg | |
| Ensemble | ENST00000360586.8:c.2725G>A | ENST00000360586.8:p.Gly909Arg |
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 |
|---|---|---|---|---|---|
| 0.234 | ulcerative colitis | Three common NOD2 mutations are associated with Crohn's disease (p=5.08×10(-7), ... | BeFree | 23709157 | Detail |
| 0.560 | Crohn Disease | Three common NOD2 mutations are associated with Crohn's disease (p=5.08×10(-7), ... | BeFree | 23709157 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Three common NOD2 mutations are associated with Crohn's disease (p=5.08×10(-7), 1.67×10(-6), and 1.8... | DisGeNET | Detail |
| Three common NOD2 mutations are associated with Crohn's disease (p=5.08×10(-7), 1.67×10(-6), and 1.8... | 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
- chr14:54,957,612-54,957,612
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8558
- 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)
- 119156
- 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)
- 8.392359595823962E-6
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