chr8:48846519:T>C Detail (hg19) (PRKDC)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr8:48,846,519-48,846,519 |
hg38 | chr8:47,933,959-47,933,959 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_006904.6:c.1623+6A>G | |
NM_001081640.1:c.1623+6A>G | ||
Ensemble | ENST00000314191.7:c.1623+6A>G |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:0.999 |
ToMMo:1.000 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:1.000 |
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2024-01-24 | criteria provided, multiple submitters, no conflicts | not specified |
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Detail |
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2024-02-01 | criteria provided, multiple submitters, no conflicts | Severe combined immunodeficiency due to DNA-PKcs deficiency |
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Detail |
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no assertion provided | not provided |
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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.1623+6A>G AND not specified | ClinVar | Detail |
NM_006904.7(PRKDC):c.1623+6A>G AND Severe combined immunodeficiency due to DNA-PKcs deficiency | ClinVar | Detail |
NM_006904.7(PRKDC):c.1623+6A>G 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
- rs1231202 dbSNP
- Genome
- hg19
- Position
- chr8:48,846,519-48,846,519
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1209
- Mean of sample read depth (HGVD)
- 40.73
- Standard deviation of sample read depth (HGVD)
- 34.46
- Number of reference allele (HGVD)
- 2
- Number of alternative allele (HGVD)
- 2416
- Allele Frequency (HGVD)
- 0.9991728701406121
- Gene Symbol (HGVD)
- PRKDC
- 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))
- rs1231202
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8626
- East Asian Allele Counts (ExAC)
- 8623
- East Asian Heterozygous Counts (ExAC)
- 3
- East Asian Homozygous Counts (ExAC)
- 4310
- East Asian Allele Frequency (ExAC)
- 0.9996522142360306
- Chromosome Counts in All Race (ExAC)
- 120764
- Allele Counts in All Race (ExAC)
- 115915
- Heterozygous Counts in All Race (ExAC)
- 4547
- Homozygous Counts in All Race (ExAC)
- 55684
- Allele Frequency in All Race (ExAC)
- 0.9598473054883906
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