chr17:7577106:G>C Detail (hg19) (TP53)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:7,577,106-7,577,106 |
hg38 | chr17:7,673,788-7,673,788 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001126113.2:c.832C>G | NP_001119585.1:p.Pro278Ala |
NM_001276695.1:c.832C>G | NP_001263624.1:p.Pro278Ala | |
NM_001126116.1:c.436C>G | NP_001119588.1:p.Pro146Ala |
Summary
MGeND
Clinical significance |
![]() ![]() |
Variant entry | 15 |
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 |
---|---|---|---|---|---|---|---|---|---|
![]() |
bronchus or lung, unspecified |
![]() |
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
middle third of oesophagus |
![]() |
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
malignant neoplasm of rectum |
![]() |
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
Triple-negative breast cancer |
![]() |
MGS000024
(TMGS000083) |
Manabu Muto | Kyoto University | ||||
![]() |
sigmoid colon |
![]() |
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
malignant neoplasm of rectosigmoid junction |
![]() |
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
malignant neoplasm of rectum |
![]() |
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
bronchus or lung, unspecified |
![]() |
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
middle third of oesophagus |
![]() |
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
pyloric antrum |
![]() |
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
![]() |
2016-05-31 | no assertion criteria provided | pancreatic adenocarcinoma |
![]() |
Detail |
![]() |
2016-05-31 | no assertion criteria provided |
![]() |
Detail | |
![]() |
2016-05-31 | no assertion criteria provided | Neoplasm of brain |
![]() |
Detail |
![]() |
2016-05-31 | no assertion criteria provided | Squamous cell lung carcinoma |
![]() |
Detail |
![]() |
2016-05-31 | no assertion criteria provided | Carcinoma of esophagus |
![]() |
Detail |
![]() |
2016-05-31 | no assertion criteria provided | Squamous cell carcinoma of the head and neck |
![]() |
Detail |
![]() |
2016-05-31 | no assertion criteria provided | Malignant melanoma of skin |
![]() |
Detail |
![]() |
2016-05-31 | no assertion criteria provided | ovarian serous cystadenocarcinoma |
![]() |
Detail |
![]() |
2016-05-31 | no assertion criteria provided | multiple myeloma |
![]() |
Detail |
![]() |
2016-05-31 | no assertion criteria provided | lung adenocarcinoma |
![]() |
Detail |
![]() |
2016-05-31 | no assertion criteria provided | Malignant neoplasm of body of uterus |
![]() |
Detail |
![]() |
2016-05-31 | no assertion criteria provided | Neoplasm of the large intestine |
![]() |
Detail |
![]() |
2016-05-31 | no assertion criteria provided | Breast neoplasm |
![]() |
Detail |
![]() |
2019-01-22 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
![]() |
Detail |
![]() |
2023-07-06 | criteria provided, single submitter | Li-Fraumeni syndrome |
![]() |
Detail |
![]() |
2018-12-01 | no assertion criteria provided | Neoplasm of ovary |
![]() |
Detail |
![]() |
2020-01-06 | criteria provided, single submitter | not provided |
![]() |
Detail |
![]() |
2024-02-20 | criteria provided, single submitter | Li-Fraumeni syndrome 1 |
![]() |
Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.353 | Mammary Neoplasms | We have predicted three deleterious coding non-synonymous single nucleotide poly... | BeFree | 25105660 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000546.6(TP53):c.832C>G (p.Pro278Ala) AND Pancreatic adenocarcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.832C>G (p.Pro278Ala) AND Squamous cell carcinoma of the skin | ClinVar | Detail |
NM_000546.6(TP53):c.832C>G (p.Pro278Ala) AND Neoplasm of brain | ClinVar | Detail |
NM_000546.6(TP53):c.832C>G (p.Pro278Ala) AND Squamous cell lung carcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.832C>G (p.Pro278Ala) AND Carcinoma of esophagus | ClinVar | Detail |
NM_000546.6(TP53):c.832C>G (p.Pro278Ala) AND Squamous cell carcinoma of the head and neck | ClinVar | Detail |
NM_000546.6(TP53):c.832C>G (p.Pro278Ala) AND Malignant melanoma of skin | ClinVar | Detail |
NM_000546.6(TP53):c.832C>G (p.Pro278Ala) AND Ovarian serous cystadenocarcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.832C>G (p.Pro278Ala) AND Multiple myeloma | ClinVar | Detail |
NM_000546.6(TP53):c.832C>G (p.Pro278Ala) AND Lung adenocarcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.832C>G (p.Pro278Ala) AND Malignant neoplasm of body of uterus | ClinVar | Detail |
NM_000546.6(TP53):c.832C>G (p.Pro278Ala) AND Neoplasm of the large intestine | ClinVar | Detail |
NM_000546.6(TP53):c.832C>G (p.Pro278Ala) AND Breast neoplasm | ClinVar | Detail |
NM_000546.6(TP53):c.832C>G (p.Pro278Ala) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000546.6(TP53):c.832C>G (p.Pro278Ala) AND Li-Fraumeni syndrome | ClinVar | Detail |
NM_000546.6(TP53):c.832C>G (p.Pro278Ala) AND Neoplasm of ovary | ClinVar | Detail |
NM_000546.6(TP53):c.832C>G (p.Pro278Ala) AND not provided | ClinVar | Detail |
NM_000546.6(TP53):c.832C>G (p.Pro278Ala) AND Li-Fraumeni syndrome 1 | ClinVar | Detail |
We have predicted three deleterious coding non-synonymous single nucleotide polymorphisms rs11540654... | 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
- rs17849781 dbSNP
- Genome
- hg19
- Position
- chr17:7,577,106-7,577,106
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
Genome browser