chr8:21766881:A>C Detail (hg19) (DOK2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr8:21,766,881-21,766,881 |
| hg38 | chr8:21,909,370-21,909,370 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_003974.3:c.1180T>G | NP_003965.2:p.Ser394Ala |
| Ensemble | ENST00000276420.9:c.1180T>G | ENST00000276420.9:p.Ser394Ala |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.025 |
| ToMMo:0.032 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.013 |
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
|
2019-01-18 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.003 | liver carcinoma | Seven polymorphisms of caspase 9 (rs2308941)C-->T and DOK2(rs2242241) T-->... | BeFree | 16109524 | Detail |
| <0.001 | liver carcinoma | Seven polymorphisms of caspase 9 (rs2308941)C-->T and DOK2(rs2242241) T-->... | BeFree | 16109524 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_003974.4(DOK2):c.1180T>G (p.Ser394Ala) AND not provided | ClinVar | Detail |
| Seven polymorphisms of caspase 9 (rs2308941)C-->T and DOK2(rs2242241) T-->G, 6 of polymorphism... | DisGeNET | Detail |
| Seven polymorphisms of caspase 9 (rs2308941)C-->T and DOK2(rs2242241) T-->G, 6 of polymorphism... | 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
- rs2242241 dbSNP
- Genome
- hg19
- Position
- chr8:21,766,881-21,766,881
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1207
- Mean of sample read depth (HGVD)
- 127.66
- Standard deviation of sample read depth (HGVD)
- 62.06
- Number of reference allele (HGVD)
- 2353
- Number of alternative allele (HGVD)
- 61
- Allele Frequency (HGVD)
- 0.025269262634631317
- Gene Symbol (HGVD)
- DOK2
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs2242241
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0323
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 542
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8572
- East Asian Allele Counts (ExAC)
- 108
- East Asian Heterozygous Counts (ExAC)
- 106
- East Asian Homozygous Counts (ExAC)
- 1
- East Asian Allele Frequency (ExAC)
- 0.012599160055996267
- Chromosome Counts in All Race (ExAC)
- 111436
- Allele Counts in All Race (ExAC)
- 855
- Heterozygous Counts in All Race (ExAC)
- 813
- Homozygous Counts in All Race (ExAC)
- 21
- Allele Frequency in All Race (ExAC)
- 0.007672565418715675
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