chr8:48801040:A>G Detail (hg19) (PRKDC)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr8:48,801,040-48,801,040 |
| hg38 | chr8:47,888,479-47,888,479 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_006904.6:c.4412+39T>C | |
| NM_001081640.1:c.4412+39T>C | ||
| Ensemble | ENST00000314191.7:c.4412+39T>C |
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
|
2019-02-16 | criteria provided, single submitter | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.012 | Malignant neoplasm of breast | In multivariable analyses, WRN V114I (rs2230009) significantly modified the asso... | BeFree | 17764108 | Detail |
| 0.360 | Malignant neoplasm of breast | In multivariable analyses, WRN V114I (rs2230009) significantly modified the asso... | BeFree | 17764108 | Detail |
| 0.011 | Malignant neoplasm of breast | In multivariable analyses, WRN V114I (rs2230009) significantly modified the asso... | BeFree | 17764108 | Detail |
| 0.080 | breast carcinoma | In multivariable analyses, WRN V114I (rs2230009) significantly modified the asso... | BeFree | 17764108 | Detail |
| 0.002 | breast carcinoma | In multivariable analyses, WRN V114I (rs2230009) significantly modified the asso... | BeFree | 17764108 | Detail |
| 0.001 | breast carcinoma | In multivariable analyses, WRN V114I (rs2230009) significantly modified the asso... | BeFree | 17764108 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_006904.7(PRKDC):c.4413+39T>C AND not provided | ClinVar | Detail |
| In multivariable analyses, WRN V114I (rs2230009) significantly modified the association between cumu... | DisGeNET | Detail |
| In multivariable analyses, WRN V114I (rs2230009) significantly modified the association between cumu... | DisGeNET | Detail |
| In multivariable analyses, WRN V114I (rs2230009) significantly modified the association between cumu... | DisGeNET | Detail |
| In multivariable analyses, WRN V114I (rs2230009) significantly modified the association between cumu... | DisGeNET | Detail |
| In multivariable analyses, WRN V114I (rs2230009) significantly modified the association between cumu... | DisGeNET | Detail |
| In multivariable analyses, WRN V114I (rs2230009) significantly modified the association between cumu... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs8178097 dbSNP
- Genome
- hg19
- Position
- chr8:48,801,040-48,801,040
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- East Asian Chromosome Counts (ExAC)
- 656
- 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)
- 20584
- Allele Counts in All Race (ExAC)
- 937
- Heterozygous Counts in All Race (ExAC)
- 871
- Homozygous Counts in All Race (ExAC)
- 33
- Allele Frequency in All Race (ExAC)
- 0.04552079284881461
Genome browser