chr17:7673781:C>G Detail (hg38) (TP53)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:7,577,099-7,577,099 View the variant detail on this assembly version. |
hg38 | chr17:7,673,781-7,673,781 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000546.5:c.839G>C | NP_000537.3:p.Arg280Thr |
NM_001126112.2:c.839G>C | NP_001119584.1:p.Arg280Thr | |
NM_001276760.1:c.839G>C | NP_001263689.1:p.Arg280Thr |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
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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1992-07-15 | no assertion criteria provided | Nasopharyngeal carcinoma |
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Detail |
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2023-09-11 | criteria provided, single submitter | Li-Fraumeni syndrome |
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Detail |
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2016-05-31 | no assertion criteria provided | Small cell lung carcinoma |
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Detail |
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2016-05-31 | no assertion criteria provided | hepatocellular carcinoma |
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Detail |
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2016-05-31 | no assertion criteria provided | Neoplasm of uterine cervix |
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Detail |
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2016-05-31 | no assertion criteria provided | Breast neoplasm |
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Detail |
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2016-05-31 | no assertion criteria provided | acute myeloid leukemia |
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Detail |
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2016-05-31 | no assertion criteria provided | Squamous cell carcinoma of the head and neck |
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Detail |
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2016-05-31 | no assertion criteria provided | ovarian serous cystadenocarcinoma |
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Detail |
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2016-05-31 | no assertion criteria provided |
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2016-05-31 | no assertion criteria provided |
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2016-05-31 | no assertion criteria provided | gastric adenocarcinoma |
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Detail |
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2016-05-31 | no assertion criteria provided | Squamous cell lung carcinoma |
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Detail |
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2016-05-31 | no assertion criteria provided | Malignant melanoma of skin |
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Detail |
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2016-05-31 | no assertion criteria provided | Nasopharyngeal neoplasm |
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Detail |
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2016-05-31 | no assertion criteria provided | Neoplasm of brain |
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Detail |
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2016-05-31 | no assertion criteria provided | lung adenocarcinoma |
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Detail |
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2016-05-31 | no assertion criteria provided | uterine carcinosarcoma |
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Detail |
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2016-05-31 | no assertion criteria provided | Carcinoma of esophagus |
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Detail |
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2021-06-10 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
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Detail |
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no assertion criteria provided | Malignant tumor of urinary bladder |
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Detail | |
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2024-02-20 | criteria provided, single submitter | Li-Fraumeni syndrome 1 |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.369 | Li-Fraumeni syndrome | NA | CLINVAR | Detail | |
0.261 | Nasopharyngeal carcinoma | NA | CLINVAR | Detail | |
0.329 | Glioma | Our observations indicate that the R280T mutation of p53 regulates the prolifera... | BeFree | 22999923 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000546.6(TP53):c.839G>C (p.Arg280Thr) AND Nasopharyngeal carcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.839G>C (p.Arg280Thr) AND Li-Fraumeni syndrome | ClinVar | Detail |
NM_000546.6(TP53):c.839G>C (p.Arg280Thr) AND Small cell lung carcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.839G>C (p.Arg280Thr) AND Hepatocellular carcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.839G>C (p.Arg280Thr) AND Neoplasm of uterine cervix | ClinVar | Detail |
NM_000546.6(TP53):c.839G>C (p.Arg280Thr) AND Breast neoplasm | ClinVar | Detail |
NM_000546.6(TP53):c.839G>C (p.Arg280Thr) AND Acute myeloid leukemia | ClinVar | Detail |
NM_000546.6(TP53):c.839G>C (p.Arg280Thr) AND Squamous cell carcinoma of the head and neck | ClinVar | Detail |
NM_000546.6(TP53):c.839G>C (p.Arg280Thr) AND Ovarian serous cystadenocarcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.839G>C (p.Arg280Thr) AND Squamous cell carcinoma of the skin | ClinVar | Detail |
NM_000546.6(TP53):c.839G>C (p.Arg280Thr) AND Transitional cell carcinoma of the bladder | ClinVar | Detail |
NM_000546.6(TP53):c.839G>C (p.Arg280Thr) AND Gastric adenocarcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.839G>C (p.Arg280Thr) AND Squamous cell lung carcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.839G>C (p.Arg280Thr) AND Malignant melanoma of skin | ClinVar | Detail |
NM_000546.6(TP53):c.839G>C (p.Arg280Thr) AND Nasopharyngeal neoplasm | ClinVar | Detail |
NM_000546.6(TP53):c.839G>C (p.Arg280Thr) AND Neoplasm of brain | ClinVar | Detail |
NM_000546.6(TP53):c.839G>C (p.Arg280Thr) AND Lung adenocarcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.839G>C (p.Arg280Thr) AND Uterine carcinosarcoma | ClinVar | Detail |
NM_000546.6(TP53):c.839G>C (p.Arg280Thr) AND Carcinoma of esophagus | ClinVar | Detail |
NM_000546.6(TP53):c.839G>C (p.Arg280Thr) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000546.6(TP53):c.839G>C (p.Arg280Thr) AND Malignant tumor of urinary bladder | ClinVar | Detail |
NM_000546.6(TP53):c.839G>C (p.Arg280Thr) AND Li-Fraumeni syndrome 1 | ClinVar | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Our observations indicate that the R280T mutation of p53 regulates the proliferation of human glioma... | DisGeNET | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
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Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs121912660 dbSNP
- Genome
- hg38
- Position
- chr17:7,673,781-7,673,781
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
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