chr10:113729393:C>G Detail (hg38) (CASP7)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr10:115,489,152-115,489,152 View the variant detail on this assembly version. |
hg38 | chr10:113,729,393-113,729,393 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_033338.5:c.765C>G | NP_203124.1:p.Asp255Glu |
NM_033339.4:c.765C>G | NP_203125.1:p.Asp255Glu | |
NM_001227.4:c.1020C>G | NP_001218.1:p.Asp340Glu |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:0.452 |
ToMMo:0.476 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:0.422 |
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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2021-02-23 | criteria provided, single submitter | not provided |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
<0.001 | Carcinoma of lung | In individual polymorphism analysis, the CASP7 rs2227310C>G and CASP9 rs46459... | BeFree | 20661084 | Detail |
<0.001 | Non-small cell lung carcinoma | The CASP7 rs2227310 and CASP9 rs4645981 polymorphisms may affect survival in ear... | BeFree | 19826114 | Detail |
<0.001 | Carcinoma of lung | However, we found that homozygote (G/G) of rs2227310 in the CASP-7 gene, del all... | BeFree | 23315881 | Detail |
0.002 | Carcinoma of lung | In individual polymorphism analysis, the CASP7 rs2227310C>G and CASP9 rs46459... | BeFree | 20661084 | Detail |
0.002 | Non-small cell lung carcinoma | The CASP7 rs2227310 and CASP9 rs4645981 polymorphisms may affect survival in ear... | BeFree | 19826114 | Detail |
0.008 | Malignant neoplasm of lung | In individual polymorphism analysis, the CASP7 rs2227310C>G and CASP9 rs46459... | BeFree | 20661084 | Detail |
0.008 | Malignant neoplasm of lung | However, we found that homozygote (G/G) of rs2227310 in the CASP-7 gene, del all... | BeFree | 23315881 | Detail |
0.014 | Malignant neoplasm of lung | However, we found that homozygote (G/G) of rs2227310 in the CASP-7 gene, del all... | BeFree | 23315881 | Detail |
0.014 | Malignant neoplasm of lung | In individual polymorphism analysis, the CASP7 rs2227310C>G and CASP9 rs46459... | BeFree | 20661084 | Detail |
0.002 | Carcinoma of lung | However, we found that homozygote (G/G) of rs2227310 in the CASP-7 gene, del all... | BeFree | 23315881 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001227.5(CASP7):c.765C>G (p.Asp255Glu) AND not provided | ClinVar | Detail |
In individual polymorphism analysis, the CASP7 rs2227310C>G and CASP9 rs4645981C>T were associ... | DisGeNET | Detail |
The CASP7 rs2227310 and CASP9 rs4645981 polymorphisms may affect survival in early-stage NSCLC. | DisGeNET | Detail |
However, we found that homozygote (G/G) of rs2227310 in the CASP-7 gene, del allele, heterozygote (i... | DisGeNET | Detail |
In individual polymorphism analysis, the CASP7 rs2227310C>G and CASP9 rs4645981C>T were associ... | DisGeNET | Detail |
The CASP7 rs2227310 and CASP9 rs4645981 polymorphisms may affect survival in early-stage NSCLC. | DisGeNET | Detail |
In individual polymorphism analysis, the CASP7 rs2227310C>G and CASP9 rs4645981C>T were associ... | DisGeNET | Detail |
However, we found that homozygote (G/G) of rs2227310 in the CASP-7 gene, del allele, heterozygote (i... | DisGeNET | Detail |
However, we found that homozygote (G/G) of rs2227310 in the CASP-7 gene, del allele, heterozygote (i... | DisGeNET | Detail |
In individual polymorphism analysis, the CASP7 rs2227310C>G and CASP9 rs4645981C>T were associ... | DisGeNET | Detail |
However, we found that homozygote (G/G) of rs2227310 in the CASP-7 gene, del allele, heterozygote (i... | 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
- -
- dbSNP
- rs2227310 dbSNP
- Genome
- hg38
- Position
- chr10:113,729,393-113,729,393
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1189
- Mean of sample read depth (HGVD)
- 70.32
- Standard deviation of sample read depth (HGVD)
- 34.52
- Number of reference allele (HGVD)
- 1303
- Number of alternative allele (HGVD)
- 1073
- Allele Frequency (HGVD)
- 0.4515993265993266
- Gene Symbol (HGVD)
- CASP7
- 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))
- rs2227310
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.4757
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 7973
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8632
- East Asian Allele Counts (ExAC)
- 3645
- East Asian Heterozygous Counts (ExAC)
- 2107
- East Asian Homozygous Counts (ExAC)
- 769
- East Asian Allele Frequency (ExAC)
- 0.42226598702502316
- Chromosome Counts in All Race (ExAC)
- 121384
- Allele Counts in All Race (ExAC)
- 31539
- Heterozygous Counts in All Race (ExAC)
- 22869
- Homozygous Counts in All Race (ExAC)
- 4335
- Allele Frequency in All Race (ExAC)
- 0.25982831345152574
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