chr17:7673776:G>C Detail (hg38) (TP53)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:7,577,094-7,577,094 View the variant detail on this assembly version. |
hg38 | chr17:7,673,776-7,673,776 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000546.5:c.844C>G | NP_000537.3:p.Arg282Gly |
NM_001126112.2:c.844C>G | NP_001119584.1:p.Arg282Gly | |
NM_001276760.1:c.844C>G | NP_001263689.1:p.Arg282Gly |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2022-10-28 | 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 | non-Hodgkin lymphoma |
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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 | pancreatic adenocarcinoma |
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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 | glioblastoma |
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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 | prostate 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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2016-05-31 | 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 |
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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 |
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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 | Papillary renal cell carcinoma type 1 |
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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 | Neoplasm of the large intestine |
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Detail |
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2018-12-01 | no assertion criteria provided | Neoplasm of ovary |
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Detail |
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2023-04-17 | criteria provided, single submitter | Li-Fraumeni syndrome |
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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 |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.441 | Li-Fraumeni syndrome 1 | NA | CLINVAR | Detail | |
0.122 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail | |
0.369 | Li-Fraumeni syndrome | NA | CLINVAR | Detail | |
0.126 | Li-fraumeni-like syndrome | NA | CLINVAR | Detail | |
0.382 | osteosarcoma | NA | CLINVAR | Detail | |
0.441 | Li-Fraumeni syndrome 1 | Molecular analysis of the TP53 gene in Barrett's adenocarcinoma. | UNIPROT | 8829627 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000546.6(TP53):c.844C>G (p.Arg282Gly) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000546.6(TP53):c.844C>G (p.Arg282Gly) AND Non-Hodgkin lymphoma | ClinVar | Detail |
NM_000546.6(TP53):c.844C>G (p.Arg282Gly) AND Neoplasm of brain | ClinVar | Detail |
NM_000546.6(TP53):c.844C>G (p.Arg282Gly) AND Lung adenocarcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.844C>G (p.Arg282Gly) AND Pancreatic adenocarcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.844C>G (p.Arg282Gly) AND Carcinoma of esophagus | ClinVar | Detail |
NM_000546.6(TP53):c.844C>G (p.Arg282Gly) AND Glioblastoma | ClinVar | Detail |
NM_000546.6(TP53):c.844C>G (p.Arg282Gly) AND Hepatocellular carcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.844C>G (p.Arg282Gly) AND Prostate adenocarcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.844C>G (p.Arg282Gly) AND Malignant neoplasm of body of uterus | ClinVar | Detail |
NM_000546.6(TP53):c.844C>G (p.Arg282Gly) AND Gastric adenocarcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.844C>G (p.Arg282Gly) AND Squamous cell lung carcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.844C>G (p.Arg282Gly) AND Squamous cell carcinoma of the skin | ClinVar | Detail |
NM_000546.6(TP53):c.844C>G (p.Arg282Gly) AND Breast neoplasm | ClinVar | Detail |
NM_000546.6(TP53):c.844C>G (p.Arg282Gly) AND Transitional cell carcinoma of the bladder | ClinVar | Detail |
NM_000546.6(TP53):c.844C>G (p.Arg282Gly) AND Malignant melanoma of skin | ClinVar | Detail |
NM_000546.6(TP53):c.844C>G (p.Arg282Gly) AND Papillary renal cell carcinoma type 1 | ClinVar | Detail |
NM_000546.6(TP53):c.844C>G (p.Arg282Gly) AND Squamous cell carcinoma of the head and neck | ClinVar | Detail |
NM_000546.6(TP53):c.844C>G (p.Arg282Gly) AND Ovarian serous cystadenocarcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.844C>G (p.Arg282Gly) AND Neoplasm of the large intestine | ClinVar | Detail |
NM_000546.6(TP53):c.844C>G (p.Arg282Gly) AND Neoplasm of ovary | ClinVar | Detail |
NM_000546.6(TP53):c.844C>G (p.Arg282Gly) AND Li-Fraumeni syndrome | ClinVar | Detail |
NM_000546.6(TP53):c.844C>G (p.Arg282Gly) AND Li-Fraumeni syndrome 1 | ClinVar | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Molecular analysis of the TP53 gene in Barrett's adenocarcinoma. | 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
- rs28934574 dbSNP
- Genome
- hg38
- Position
- chr17:7,673,776-7,673,776
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
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