chr14:68660428:T>C Detail (hg19) (RAD51B)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr14:68,660,428-68,660,428 |
hg38 | chr14:68,193,711-68,193,711 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001321812.1:c.757-98173T>C | |
NM_001321817.1:c.757-98173T>C | ||
NM_133510.3:c.757-98173T>C |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:0.978 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:[No Data.] |
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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2019-06-14 | criteria provided, single submitter | not provided |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.120 | Malignant neoplasm of breast | Associations with TN breast cancer were confirmed for 10 loci (LGR6, MDM4, CASP8... | BeFree | 24325915 | Detail |
<0.001 | breast carcinoma | Associations with TN breast cancer were confirmed for 10 loci (LGR6, MDM4, CASP8... | BeFree | 24325915 | Detail |
0.120 | Malignant neoplasm of breast | Associations with TN breast cancer were confirmed for 10 loci (LGR6, MDM4, CASP8... | BeFree | 24325915 | Detail |
<0.001 | breast carcinoma | Associations with TN breast cancer were confirmed for 10 loci (LGR6, MDM4, CASP8... | BeFree | 24325915 | Detail |
0.132 | Malignant neoplasm of breast | Large-scale genotyping identifies 41 new loci associated with breast cancer risk... | GWASCAT | 23535729 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_133510.4(RAD51B):c.757-98173T>C AND not provided | ClinVar | Detail |
Associations with TN breast cancer were confirmed for 10 loci (LGR6, MDM4, CASP8, 2q35, 2p24.1, TERT... | DisGeNET | Detail |
Associations with TN breast cancer were confirmed for 10 loci (LGR6, MDM4, CASP8, 2q35, 2p24.1, TERT... | DisGeNET | Detail |
Associations with TN breast cancer were confirmed for 10 loci (LGR6, MDM4, CASP8, 2q35, 2p24.1, TERT... | DisGeNET | Detail |
Associations with TN breast cancer were confirmed for 10 loci (LGR6, MDM4, CASP8, 2q35, 2p24.1, TERT... | DisGeNET | Detail |
Large-scale genotyping identifies 41 new loci associated with breast cancer risk. | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs2588809 dbSNP
- Genome
- hg19
- Position
- chr14:68,660,428-68,660,428
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- 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))
- rs2588809
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.9777
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16387
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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