chr17:7578211:C>G Detail (hg19) (TP53)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:7,578,211-7,578,211 |
hg38 | chr17:7,674,893-7,674,893 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001126116.1:c.242G>C | NP_001119588.1:p.Arg81Pro |
NM_001276698.1:c.242G>C | NP_001263627.1:p.Arg81Pro | |
NM_001126117.1:c.161G>C | NP_001119589.1:p.Arg54Pro |
Summary
MGeND
Clinical significance |
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Variant entry | 3 |
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
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
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descending colon |
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MGS000040
(TMGS000095) |
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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2024-01-12 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
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Detail |
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2016-05-31 | no assertion criteria provided | prostate adenocarcinoma |
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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 |
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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 | lung adenocarcinoma |
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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 | Neoplasm of brain |
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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 | Squamous cell lung carcinoma |
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Detail |
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2016-05-31 | no assertion criteria provided | adenoid cystic carcinoma |
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Detail |
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2016-05-31 | no assertion criteria provided | Papillary renal cell carcinoma type 1 |
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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 | Adrenal cortex carcinoma |
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Detail |
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2016-05-31 | no assertion criteria provided |
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Detail | |
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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 | glioblastoma |
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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 the large intestine |
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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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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 | pancreatic adenocarcinoma |
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Detail |
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2016-05-31 | no assertion criteria provided | Malignant neoplasm of body of uterus |
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Detail |
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2016-11-02 | criteria provided, single submitter | not specified |
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Detail |
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2022-06-18 | criteria provided, single submitter | Li-Fraumeni syndrome 1 |
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Detail |
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2023-09-09 | criteria provided, single submitter | Li-Fraumeni syndrome |
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Detail |
CIViC
Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
---|---|---|---|---|---|---|---|---|---|
stomach carcinoma | EAP Protocol | C |
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Sensitivity/Response | Somatic | 14514923 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
In a study of 25 patients with advanced gastric cancer, mutations in TP53 were identified in 32% of ... | CIViC Evidence | Detail |
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) AND Prostate adenocarcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) AND Squamous cell carcinoma of the head and neck | ClinVar | Detail |
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) AND Squamous cell carcinoma of the skin | ClinVar | Detail |
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) AND Hepatocellular carcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) AND Lung adenocarcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) AND Ovarian serous cystadenocarcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) AND Neoplasm of brain | ClinVar | Detail |
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) AND Breast neoplasm | ClinVar | Detail |
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) AND Squamous cell lung carcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) AND Adenoid cystic carcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) AND Papillary renal cell carcinoma type 1 | ClinVar | Detail |
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) AND Malignant melanoma of skin | ClinVar | Detail |
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) AND Adrenal cortex carcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) AND Transitional cell carcinoma of the bladder | ClinVar | Detail |
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) AND Gastric adenocarcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) AND Glioblastoma | ClinVar | Detail |
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) AND Nasopharyngeal neoplasm | ClinVar | Detail |
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) AND Neoplasm of the large intestine | ClinVar | Detail |
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) AND Carcinoma of esophagus | ClinVar | Detail |
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) AND Uterine carcinosarcoma | ClinVar | Detail |
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) AND Pancreatic adenocarcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) AND Malignant neoplasm of body of uterus | ClinVar | Detail |
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) AND not specified | ClinVar | Detail |
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) AND Li-Fraumeni syndrome 1 | ClinVar | Detail |
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) AND Li-Fraumeni syndrome | ClinVar | 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
- rs587778720 dbSNP
- Genome
- hg19
- Position
- chr17:7,578,211-7,578,211
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
- Variant (CIViC) (CIViC Variant)
- R213P
- Transcript 1 (CIViC Variant)
- ENST00000269305.4
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1109
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