chr12:69233215:A>G Detail (hg19) (MDM2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr12:69,233,215-69,233,215 |
hg38 | chr12:68,839,435-68,839,435 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001145339.2:c.915A>G | NP_001138811.1:p.Glu305= |
NM_002392.5:c.1080A>G | NP_002383.2:p.Glu360= | |
Ensemble | ENST00000393412.7:c.318A>G | ENST00000393412.7:p.Glu106= |
Summary
MGeND
Clinical significance |
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Variant entry | 182 |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:0.015 |
ToMMo:0.015 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:0.017 |
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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middle third of oesophagus |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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fundus of stomach |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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body of stomach |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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pyloric antrum |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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jejunum |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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small intestine, unspecified |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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caecum |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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ascending colon |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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transverse colon |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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descending colon |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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sigmoid colon |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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colon, unspecified |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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malignant neoplasm of rectosigmoid junction |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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malignant neoplasm of rectum |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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anal canal |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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intrahepatic bile duct carcinoma |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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malignant neoplasm of gallbladder |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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extrahepatic bile duct |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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ampulla of vater |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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head of pancreas |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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body of pancreas |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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ill-defined sites within the digestive system |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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bronchus or lung, unspecified |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2024-02-01 | criteria provided, single submitter | Accelerated tumor formation, susceptibility to |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.005 | breast carcinoma | We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs229738... | BeFree | 23755158 | Detail |
0.059 | Malignant neoplasm of breast | We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs229738... | BeFree | 23755158 | Detail |
<0.001 | breast carcinoma | We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs229738... | BeFree | 23755158 | Detail |
0.022 | Malignant neoplasm of breast | We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs229738... | BeFree | 23755158 | Detail |
<0.001 | Malignant neoplasm of breast | We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs229738... | BeFree | 23755158 | Detail |
0.008 | breast carcinoma | We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs229738... | BeFree | 23755158 | Detail |
0.021 | breast carcinoma | We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs229738... | BeFree | 23755158 | Detail |
0.019 | Malignant neoplasm of breast | We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs229738... | BeFree | 23755158 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_002392.6(MDM2):c.1080A>G (p.Glu360=) AND Accelerated tumor formation, susceptibility to | ClinVar | Detail |
We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 an... | DisGeNET | Detail |
We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 an... | DisGeNET | Detail |
We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 an... | DisGeNET | Detail |
We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 an... | DisGeNET | Detail |
We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 an... | DisGeNET | Detail |
We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 an... | DisGeNET | Detail |
We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 an... | DisGeNET | Detail |
We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 an... | 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
- rs769412 dbSNP
- Genome
- hg19
- Position
- chr12:69,233,215-69,233,215
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1203
- Mean of sample read depth (HGVD)
- 61.79
- Standard deviation of sample read depth (HGVD)
- 36.32
- Number of reference allele (HGVD)
- 2370
- Number of alternative allele (HGVD)
- 36
- Allele Frequency (HGVD)
- 0.014962593516209476
- Gene Symbol (HGVD)
- MDM2
- 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))
- rs769412
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0152
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 254
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8622
- East Asian Allele Counts (ExAC)
- 143
- East Asian Heterozygous Counts (ExAC)
- 143
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.016585479007190908
- Chromosome Counts in All Race (ExAC)
- 120690
- Allele Counts in All Race (ExAC)
- 6925
- Heterozygous Counts in All Race (ExAC)
- 6433
- Homozygous Counts in All Race (ExAC)
- 246
- Allele Frequency in All Race (ExAC)
- 0.057378407490264315
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