chr19:50858501:T>C Detail (hg38) (KLK3)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr19:51,361,757-51,361,757 View the variant detail on this assembly version. |
hg38 | chr19:50,858,501-50,858,501 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001030048.1:c.536T>C | NP_001025219.1:p.Ile179Thr |
NM_001648.2:c.536T>C | NP_001639.1:p.Ile179Thr | |
NM_001030047.1:c.536T>C | NP_001025218.1:p.Ile179Thr |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:<0.001 |
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 |
---|---|---|---|---|---|
0.262 | Malignant neoplasm of prostate | Genome-wide association scan for variants associated with early-onset prostate c... | GWASCAT | 24740154 | Detail |
<0.001 | Neoplasm Metastasis | Patients with CYP3A5*3/*3 and KLK3 I179T CC/TC genotypes had increased OR 2.30, ... | BeFree | 18306354 | Detail |
0.262 | Malignant neoplasm of prostate | Genetic variation in prostate-specific antigen-detected prostate cancer and the ... | GWASCAT | 24753544 | Detail |
0.021 | Neoplasm Metastasis | Patients with CYP3A5*3/*3 and KLK3 I179T CC/TC genotypes had increased OR 2.30, ... | BeFree | 18306354 | Detail |
0.262 | Malignant neoplasm of prostate | The genotypes of 4 single nucleotide polymorphisms previously associated with se... | BeFree | 23246478 | Detail |
0.080 | prostate carcinoma | The genotypes of 4 single nucleotide polymorphisms previously associated with se... | BeFree | 23246478 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
Genome-wide association scan for variants associated with early-onset prostate cancer. | DisGeNET | Detail |
Patients with CYP3A5*3/*3 and KLK3 I179T CC/TC genotypes had increased OR 2.30, 95% CI 1.16-4.58 for... | DisGeNET | Detail |
Genetic variation in prostate-specific antigen-detected prostate cancer and the effect of control se... | DisGeNET | Detail |
Patients with CYP3A5*3/*3 and KLK3 I179T CC/TC genotypes had increased OR 2.30, 95% CI 1.16-4.58 for... | DisGeNET | Detail |
The genotypes of 4 single nucleotide polymorphisms previously associated with serum prostate specifi... | DisGeNET | Detail |
The genotypes of 4 single nucleotide polymorphisms previously associated with serum prostate specifi... | 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
- chr19:50,858,501-50,858,501
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1209
- Mean of sample read depth (HGVD)
- 91.63
- Standard deviation of sample read depth (HGVD)
- 43.44
- Number of reference allele (HGVD)
- 2417
- Number of alternative allele (HGVD)
- 1
- Allele Frequency (HGVD)
- 4.1356492969396195E-4
- Gene Symbol (HGVD)
- KLK3
- East Asian Chromosome Counts (ExAC)
- 8648
- East Asian Allele Counts (ExAC)
- 3
- East Asian Heterozygous Counts (ExAC)
- 3
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 3.469010175763182E-4
- Chromosome Counts in All Race (ExAC)
- 121290
- Allele Counts in All Race (ExAC)
- 6701
- Heterozygous Counts in All Race (ExAC)
- 6245
- Homozygous Counts in All Race (ExAC)
- 228
- Allele Frequency in All Race (ExAC)
- 0.05524775331849287
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