chr10:131565170:A>G Detail (hg19) (MGMT)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr10:131,565,170-131,565,170 |
hg38 | chr10:129,766,906-129,766,906 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_002412.4:c.626A>G | NP_002403.2:p.Lys209Arg |
Ensemble | ENST00000306010.8:c.626A>G | ENST00000306010.8:p.Lys209Arg |
ENST00000651593.1:c.533A>G | ENST00000651593.1:p.Lys178Arg |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:0.002 |
ToMMo:0.002 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:0.008 |
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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2019-10-07 | criteria provided, single submitter | not provided |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
<0.001 | Malignant neoplasm of lung | The association between lung cancer risk and 2 polymorphisms, rs12268840 and rs2... | BeFree | 17957803 | Detail |
<0.001 | Carcinoma of lung | The association between lung cancer risk and 2 polymorphisms, rs12268840 and rs2... | BeFree | 17957803 | Detail |
0.033 | colorectal cancer | Of note, the MGMT Lys(178)Arg (rs2308237) SNP, in linkage disequilibrium with th... | BeFree | 18268114 | Detail |
0.014 | colorectal carcinoma | Of note, the MGMT Lys(178)Arg (rs2308237) SNP, in linkage disequilibrium with th... | BeFree | 18268114 | Detail |
0.003 | Lymphoma, Follicular | The following genotypes in combination with hair dye use before 1980 were associ... | BeFree | 25178586 | Detail |
0.008 | Lymphoma, Follicular | The following genotypes in combination with hair dye use before 1980 were associ... | BeFree | 25178586 | Detail |
0.003 | Lymphoma, Follicular | The following genotypes in combination with hair dye use before 1980 were associ... | BeFree | 25178586 | Detail |
0.003 | Lymphoma, Follicular | The following genotypes in combination with hair dye use before 1980 were associ... | BeFree | 25178586 | Detail |
0.003 | Lymphoma, Follicular | The following genotypes in combination with hair dye use before 1980 were associ... | BeFree | 25178586 | Detail |
0.003 | Lymphoma, Follicular | The following genotypes in combination with hair dye use before 1980 were associ... | BeFree | 25178586 | Detail |
0.003 | Lymphoma, Follicular | The following genotypes in combination with hair dye use before 1980 were associ... | BeFree | 25178586 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_002412.5(MGMT):c.533A>G (p.Lys178Arg) AND not provided | ClinVar | Detail |
The association between lung cancer risk and 2 polymorphisms, rs12268840 and rs2308327 (codon K178R)... | DisGeNET | Detail |
The association between lung cancer risk and 2 polymorphisms, rs12268840 and rs2308327 (codon K178R)... | DisGeNET | Detail |
Of note, the MGMT Lys(178)Arg (rs2308237) SNP, in linkage disequilibrium with the previously reporte... | DisGeNET | Detail |
Of note, the MGMT Lys(178)Arg (rs2308237) SNP, in linkage disequilibrium with the previously reporte... | DisGeNET | Detail |
The following genotypes in combination with hair dye use before 1980 were associated with FL risk: B... | DisGeNET | Detail |
The following genotypes in combination with hair dye use before 1980 were associated with FL risk: B... | DisGeNET | Detail |
The following genotypes in combination with hair dye use before 1980 were associated with FL risk: B... | DisGeNET | Detail |
The following genotypes in combination with hair dye use before 1980 were associated with FL risk: B... | DisGeNET | Detail |
The following genotypes in combination with hair dye use before 1980 were associated with FL risk: B... | DisGeNET | Detail |
The following genotypes in combination with hair dye use before 1980 were associated with FL risk: B... | DisGeNET | Detail |
The following genotypes in combination with hair dye use before 1980 were associated with FL risk: B... | 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
- rs2308327 dbSNP
- Genome
- hg19
- Position
- chr10:131,565,170-131,565,170
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- Filtering Status (HGVD)
- PASS
- Filtering Status (HGVD)
- LowQual
- # of samples (HGVD)
- 1207
- Mean of sample read depth (HGVD)
- 62.71
- Standard deviation of sample read depth (HGVD)
- 28.52
- Number of reference allele (HGVD)
- 2408
- Number of alternative allele (HGVD)
- 6
- Allele Frequency (HGVD)
- 0.0024855012427506215
- Gene Symbol (HGVD)
- MGMT
- 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))
- rs2308327
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.002
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 33
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8568
- East Asian Allele Counts (ExAC)
- 66
- East Asian Heterozygous Counts (ExAC)
- 66
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.007703081232492998
- Chromosome Counts in All Race (ExAC)
- 118058
- Allele Counts in All Race (ExAC)
- 11184
- Heterozygous Counts in All Race (ExAC)
- 9862
- Homozygous Counts in All Race (ExAC)
- 661
- Allele Frequency in All Race (ExAC)
- 0.09473309729116197
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