chr17:7674947:A>G Detail (hg38) (TP53)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:7,578,265-7,578,265 View the variant detail on this assembly version. |
hg38 | chr17:7,674,947-7,674,947 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000546.5:c.584T>C | NP_000537.3:p.Ile195Thr |
NM_001126112.2:c.584T>C | NP_001119584.1:p.Ile195Thr | |
NM_001276760.1:c.584T>C | NP_001263689.1:p.Ile195Thr |
Summary
MGeND
Clinical significance |
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Variant entry | 1 |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance | Conflicting classifications of pathogenicity |
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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li-fraumeni syndrome |
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MGS000001
(TMGS000178) |
Kenjiro Kosaki | Keio University |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2023-12-27 | criteria provided, single submitter | Li-Fraumeni syndrome |
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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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2022-06-06 | criteria provided, single submitter | lung adenocarcinoma |
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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 | Carcinoma of esophagus |
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Detail |
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2016-05-31 | no assertion criteria provided | B-cell chronic lymphocytic leukemia |
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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 | Squamous cell lung carcinoma |
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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 | ovarian serous cystadenocarcinoma |
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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 | uterine carcinosarcoma |
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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 | gastric adenocarcinoma |
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Detail |
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2016-05-31 | no assertion criteria provided | multiple myeloma |
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Detail |
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2022-06-30 | criteria provided, single submitter | not provided |
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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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2022-06-18 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
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Detail |
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2019-06-11 | no assertion criteria provided | Breast and/or ovarian cancer |
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Detail |
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2024-02-15 | criteria provided, multiple submitters, no conflicts | Li-Fraumeni syndrome 1 |
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Detail |
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2022-11-09 | criteria provided, single submitter | Adrenocortical carcinoma, hereditary |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.369 | Li-Fraumeni syndrome | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND Li-Fraumeni syndrome | ClinVar | Detail |
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND Neoplasm of brain | ClinVar | Detail |
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND Breast neoplasm | ClinVar | Detail |
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND Lung adenocarcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND Acute myeloid leukemia | ClinVar | Detail |
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND Carcinoma of esophagus | ClinVar | Detail |
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND B-cell chronic lymphocytic leukemia | ClinVar | Detail |
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND Neoplasm of the large intestine | ClinVar | Detail |
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND Squamous cell lung carcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND Glioblastoma | ClinVar | Detail |
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND Hepatocellular carcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND Ovarian serous cystadenocarcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND Pancreatic adenocarcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND Uterine carcinosarcoma | ClinVar | Detail |
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND Squamous cell carcinoma of the head and neck | ClinVar | Detail |
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND Gastric adenocarcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND Multiple myeloma | ClinVar | Detail |
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND not provided | ClinVar | Detail |
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND Neoplasm of ovary | ClinVar | Detail |
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND Breast and/or ovarian cancer | ClinVar | Detail |
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND Li-Fraumeni syndrome 1 | ClinVar | Detail |
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND Adrenocortical carcinoma, hereditary | ClinVar | Detail |
NA | 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
- rs760043106 dbSNP
- Genome
- hg38
- Position
- chr17:7,674,947-7,674,947
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
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