chr19:33792753:A>G Detail (hg19) (CEBPA)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:33,792,753-33,792,753 |
| hg38 | chr19:33,301,847-33,301,847 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001285829.1:c.568T>C | NP_001272758.1:p.Ser190Pro |
| NM_001287424.1:c.568T>C | NP_001274353.1:p.Ser190Pro | |
| NM_001287435.1:c.568T>C | NP_001274364.1:p.Ser190Pro |
Summary
MGeND
| Clinical significance |
not provided
|
| Variant entry | 52 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.004 |
| ToMMo:<0.001 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
Prediction
ClinVar
| Clinical Significance |
Uncertain significance
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
not provided
|
Carcinoma of pancreas (disorder) |
unknown
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Glioblastoma |
unknown
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Desmoplastic small round cell tumor (morphologic abnormality) |
unknown
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Cholangiocarcinoma of biliary tract (disorder) |
unknown
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Carcinoma of cecum (disorder) |
unknown
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Solid pseudopapillary carcinoma (morphologic abnormality)_Carcinoma of pancreas (disorder) |
unknown
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Malignant tumor of salivary gland (disorder) |
unknown
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Squamous cell carcinoma (disorder)_Neoplasm of vagina (disorder) |
unknown
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Primary adenocarcinoma of colon (disorder) |
unknown
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Carcinoma of lower third of esophagus (disorder) |
unknown
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Squamous cell carcinoma of esophagus (disorder) |
unknown
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Clear cell carcinoma of kidney (disorder) |
unknown
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Adenocarcinoma of stomach (disorder) |
unknown
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Carcinoma of colon (disorder) |
unknown
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Carcinoma of gallbladder (disorder)_Adenocarcinoma NOS (morphologic abnormality) |
unknown
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Human epidermal growth factor 2 negative carcinoma of breast (disorder)_Hormone receptor negative neoplasm (disorder) |
unknown
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Ewing's sarcoma (morphologic abnormality) |
unknown
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Adenocarcinoma of sigmoid colon (disorder) |
unknown
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Neuroendocrine carcinoma (disorder) |
unknown
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Carcinoma of cervix (disorder) |
unknown
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Adenocarcinoma of lung (disorder) |
unknown
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Adenocarcinoma of pancreas |
unknown
|
MGS000022
(TMGS000081) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Cholangiocarcinoma of biliary tract (disorder) |
unknown
|
MGS000022
(TMGS000081) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Carcinoma of cervix (disorder) |
unknown
|
MGS000023
(TMGS000082) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Carcinoma of pancreas (disorder)_Acinar cell carcinoma (morphologic abnormality) |
unknown
|
MGS000023
(TMGS000082) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Malignant tumor of rectum (disorder) |
unknown
|
MGS000023
(TMGS000082) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Transitional cell carcinoma of kidney (disorder) |
unknown
|
MGS000023
(TMGS000082) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Sarcoma of uterus (disorder) |
unknown
|
MGS000023
(TMGS000082) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Adenoid cystic carcinoma (morphologic abnormality) |
unknown
|
MGS000023
(TMGS000082) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Carcinoma of cecum (disorder) |
unknown
|
MGS000023
(TMGS000082) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Triple-negative breast cancer |
unknown
|
MGS000024
(TMGS000083) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Malignant tumor of rectum (disorder) |
unknown
|
MGS000024
(TMGS000083) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Adenocarcinoma of lung (disorder) |
unknown
|
MGS000024
(TMGS000083) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Adenocarcinoma NOS (morphologic abnormality) |
unknown
|
MGS000025
(TMGS000084) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Yolk sac tumor |
unknown
|
MGS000025
(TMGS000084) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Angiosarcoma (disorder) |
unknown
|
MGS000025
(TMGS000084) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Carcinoma of pancreas (disorder) |
unknown
|
MGS000025
(TMGS000084) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Squamous cell carcinoma of esophagus (disorder) |
unknown
|
MGS000025
(TMGS000084) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Carcinoma of breast (disorder) |
unknown
|
MGS000025
(TMGS000084) |
Manabu Muto | Kyoto University |
ClinVar
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_004364.5(CEBPA):c.568T>C (p.Ser190Pro) AND Acute myeloid leukemia | ClinVar | Detail |
| NM_004364.5(CEBPA):c.568T>C (p.Ser190Pro) AND not provided | ClinVar | 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
- rs867463920 dbSNP
- Genome
- hg19
- Position
- chr19:33,792,753-33,792,753
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- Filtering Status (HGVD)
- PASS
- Filtering Status (HGVD)
- VQSRTrancheSNP99.00to99.90
- Filtering Status (HGVD)
- LowQual
- # of samples (HGVD)
- 801
- Mean of sample read depth (HGVD)
- 17.23
- Standard deviation of sample read depth (HGVD)
- 7.20
- Number of reference allele (HGVD)
- 1595
- Number of alternative allele (HGVD)
- 7
- Allele Frequency (HGVD)
- 0.004369538077403246
- Gene Symbol (HGVD)
- CEBPA
- 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))
- rs867463920
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0002
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 3
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16740
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