chr5:87399457:A>G Detail (hg38) (CCNH)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr5:86,695,274-86,695,274 View the variant detail on this assembly version. |
hg38 | chr5:87,399,457-87,399,457 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001239.3:c.809T>C | NP_001230.1:p.Val270Ala |
NM_001199189.1:c.587T>C | NP_001186118.1:p.Val196Ala | |
Ensemble | ENST00000256897.9:c.809T>C | ENST00000256897.9:p.Val270Ala |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:0.078 |
ToMMo:0.087 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:0.093 |
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 |
---|---|---|---|---|---|
0.010 | chronic lymphocytic leukemia | After adjustment for multiple testing, we found a strong association between CLL... | BeFree | 19074885 | Detail |
0.006 | chronic lymphocytic leukemia | After adjustment for multiple testing, we found a strong association between CLL... | BeFree | 19074885 | Detail |
0.003 | chronic lymphocytic leukemia | After adjustment for multiple testing, we found a strong association between CLL... | BeFree | 19074885 | Detail |
0.005 | chronic lymphocytic leukemia | After adjustment for multiple testing, we found a strong association between CLL... | BeFree | 19074885 | Detail |
0.124 | chronic lymphocytic leukemia | After adjustment for multiple testing, we found a strong association between CLL... | BeFree | 19074885 | Detail |
0.001 | Carcinoma of bladder | In classification and regression tree analysis, we observed gene-gene interactio... | BeFree | 17728339 | Detail |
0.015 | Malignant neoplasm of urinary bladder | In classification and regression tree analysis, we observed gene-gene interactio... | BeFree | 17728339 | Detail |
0.005 | Malignant neoplasm of urinary bladder | In classification and regression tree analysis, we observed gene-gene interactio... | BeFree | 17728339 | Detail |
<0.001 | Carcinoma of bladder | In classification and regression tree analysis, we observed gene-gene interactio... | BeFree | 17728339 | Detail |
<0.001 | squamous cell carcinoma | Both of CCNH-V270A C/C or C/T and XPD 751 A/A showed a significant longer surviv... | BeFree | 21676483 | Detail |
0.176 | squamous cell carcinoma | Both of CCNH-V270A C/C or C/T and XPD 751 A/A showed a significant longer surviv... | BeFree | 21676483 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
After adjustment for multiple testing, we found a strong association between CLL risk and six geneti... | DisGeNET | Detail |
After adjustment for multiple testing, we found a strong association between CLL risk and six geneti... | DisGeNET | Detail |
After adjustment for multiple testing, we found a strong association between CLL risk and six geneti... | DisGeNET | Detail |
After adjustment for multiple testing, we found a strong association between CLL risk and six geneti... | DisGeNET | Detail |
After adjustment for multiple testing, we found a strong association between CLL risk and six geneti... | DisGeNET | Detail |
In classification and regression tree analysis, we observed gene-gene interactions among CCNH V270A,... | DisGeNET | Detail |
In classification and regression tree analysis, we observed gene-gene interactions among CCNH V270A,... | DisGeNET | Detail |
In classification and regression tree analysis, we observed gene-gene interactions among CCNH V270A,... | DisGeNET | Detail |
In classification and regression tree analysis, we observed gene-gene interactions among CCNH V270A,... | DisGeNET | Detail |
Both of CCNH-V270A C/C or C/T and XPD 751 A/A showed a significant longer survival in the squamous c... | DisGeNET | Detail |
Both of CCNH-V270A C/C or C/T and XPD 751 A/A showed a significant longer survival in the squamous c... | 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
- chr5:87,399,457-87,399,457
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 946
- Mean of sample read depth (HGVD)
- 22.86
- Standard deviation of sample read depth (HGVD)
- 41.12
- Number of reference allele (HGVD)
- 1743
- Number of alternative allele (HGVD)
- 148
- Allele Frequency (HGVD)
- 0.07826546800634585
- Gene Symbol (HGVD)
- CCNH
- 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))
- rs2230641
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0868
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1455
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8654
- East Asian Allele Counts (ExAC)
- 801
- East Asian Heterozygous Counts (ExAC)
- 717
- East Asian Homozygous Counts (ExAC)
- 42
- East Asian Allele Frequency (ExAC)
- 0.0925583545181419
- Chromosome Counts in All Race (ExAC)
- 121394
- Allele Counts in All Race (ExAC)
- 22044
- Heterozygous Counts in All Race (ExAC)
- 17408
- Homozygous Counts in All Race (ExAC)
- 2318
- Allele Frequency in All Race (ExAC)
- 0.18159052341960888
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