chr17:7577091:G>A Detail (hg19) (TP53)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:7,577,091-7,577,091 |
hg38 | chr17:7,673,773-7,673,773 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001126116.1:c.451C>T | NP_001119588.1:p.Arg151Cys |
NM_001276698.1:c.451C>T | NP_001263627.1:p.Arg151Cys | |
NM_001126113.2:c.847C>T | NP_001119585.1:p.Arg283Cys |
Summary
MGeND
Clinical significance |
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Variant entry | 4 |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:[No Data.] | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:<0.001 |
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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jejunum |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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ill-defined sites within the digestive system |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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2018/01/13 | breast, unspecified |
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MGS000028
(TMGS000049) |
Yukihide Momozawa | RIKEN |
30287823
|
||
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2021/03/19 | breast |
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MGS000048
(TMGS000112) |
Yukihide Momozawa Koichi Matsuda |
RIKEN The University of Tokyo |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2024-03-05 | criteria provided, conflicting interpretations | Hereditary cancer-predisposing syndrome |
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Detail |
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2024-02-06 | criteria provided, conflicting interpretations | not specified |
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Detail |
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2014-06-01 | no assertion criteria provided | Neoplasm of stomach |
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Detail |
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2022-03-18 | reviewed by expert panel | Li-Fraumeni syndrome |
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Detail |
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2019-01-01 | criteria provided, multiple submitters, no conflicts | Li-Fraumeni syndrome 1 |
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Detail |
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2023-06-22 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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no assertion criteria provided |
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Detail | ||
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2022-05-17 | criteria provided, single submitter | Familial cancer of breast,Bone marrow failure syndrome 5,colorectal cancer,choroid plexus papilloma,Carcinoma of pancreas,Glioma susceptibility 1,Li-Fraumeni syndrome 1,bone osteosarcoma,Nasopharyngeal carcinoma,Basal cell carcinoma, susceptibility to, 7,hepatocellular carcinoma,Adrenocortical carcinoma, hereditary |
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Detail |
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2022-05-17 | criteria provided, single submitter | Familial cancer of breast,Bone marrow failure syndrome 5,colorectal cancer,choroid plexus papilloma,Carcinoma of pancreas,Glioma susceptibility 1,Li-Fraumeni syndrome 1,bone osteosarcoma,Nasopharyngeal carcinoma,Basal cell carcinoma, susceptibility to, 7,hepatocellular carcinoma,Adrenocortical carcinoma, hereditary |
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Detail |
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2022-05-17 | criteria provided, single submitter | Familial cancer of breast,Bone marrow failure syndrome 5,colorectal cancer,choroid plexus papilloma,Carcinoma of pancreas,Glioma susceptibility 1,Li-Fraumeni syndrome 1,bone osteosarcoma,Nasopharyngeal carcinoma,Basal cell carcinoma, susceptibility to, 7,hepatocellular carcinoma,Adrenocortical carcinoma, hereditary |
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Detail |
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2022-05-17 | criteria provided, single submitter | Familial cancer of breast,Bone marrow failure syndrome 5,colorectal cancer,choroid plexus papilloma,Carcinoma of pancreas,Glioma susceptibility 1,Li-Fraumeni syndrome 1,bone osteosarcoma,Nasopharyngeal carcinoma,Basal cell carcinoma, susceptibility to, 7,hepatocellular carcinoma,Adrenocortical carcinoma, hereditary |
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Detail |
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2022-05-17 | criteria provided, single submitter | Familial cancer of breast,Bone marrow failure syndrome 5,colorectal cancer,choroid plexus papilloma,Carcinoma of pancreas,Glioma susceptibility 1,Li-Fraumeni syndrome 1,bone osteosarcoma,Nasopharyngeal carcinoma,Basal cell carcinoma, susceptibility to, 7,hepatocellular carcinoma,Adrenocortical carcinoma, hereditary |
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Detail |
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2022-05-17 | criteria provided, single submitter | Familial cancer of breast,Bone marrow failure syndrome 5,colorectal cancer,choroid plexus papilloma,Carcinoma of pancreas,Glioma susceptibility 1,Li-Fraumeni syndrome 1,bone osteosarcoma,Nasopharyngeal carcinoma,Basal cell carcinoma, susceptibility to, 7,hepatocellular carcinoma,Adrenocortical carcinoma, hereditary |
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Detail |
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2022-05-17 | criteria provided, single submitter | Familial cancer of breast,Bone marrow failure syndrome 5,colorectal cancer,choroid plexus papilloma,Carcinoma of pancreas,Glioma susceptibility 1,Li-Fraumeni syndrome 1,bone osteosarcoma,Nasopharyngeal carcinoma,Basal cell carcinoma, susceptibility to, 7,hepatocellular carcinoma,Adrenocortical carcinoma, hereditary |
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Detail |
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2022-05-17 | criteria provided, single submitter | Familial cancer of breast,Bone marrow failure syndrome 5,colorectal cancer,choroid plexus papilloma,Carcinoma of pancreas,Glioma susceptibility 1,Li-Fraumeni syndrome 1,bone osteosarcoma,Nasopharyngeal carcinoma,Basal cell carcinoma, susceptibility to, 7,hepatocellular carcinoma,Adrenocortical carcinoma, hereditary |
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Detail |
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2022-05-17 | criteria provided, single submitter | Familial cancer of breast,Bone marrow failure syndrome 5,colorectal cancer,choroid plexus papilloma,Carcinoma of pancreas,Glioma susceptibility 1,Li-Fraumeni syndrome 1,bone osteosarcoma,Nasopharyngeal carcinoma,Basal cell carcinoma, susceptibility to, 7,hepatocellular carcinoma,Adrenocortical carcinoma, hereditary |
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Detail |
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2022-05-17 | criteria provided, single submitter | Familial cancer of breast,Bone marrow failure syndrome 5,colorectal cancer,choroid plexus papilloma,Carcinoma of pancreas,Glioma susceptibility 1,Li-Fraumeni syndrome 1,bone osteosarcoma,Nasopharyngeal carcinoma,Basal cell carcinoma, susceptibility to, 7,hepatocellular carcinoma,Adrenocortical carcinoma, hereditary |
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Detail |
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2022-05-17 | criteria provided, single submitter | Familial cancer of breast,Bone marrow failure syndrome 5,colorectal cancer,choroid plexus papilloma,Carcinoma of pancreas,Glioma susceptibility 1,Li-Fraumeni syndrome 1,bone osteosarcoma,Nasopharyngeal carcinoma,Basal cell carcinoma, susceptibility to, 7,hepatocellular carcinoma,Adrenocortical carcinoma, hereditary |
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Detail |
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2022-05-17 | criteria provided, single submitter | Familial cancer of breast,Bone marrow failure syndrome 5,colorectal cancer,choroid plexus papilloma,Carcinoma of pancreas,Glioma susceptibility 1,Li-Fraumeni syndrome 1,bone osteosarcoma,Nasopharyngeal carcinoma,Basal cell carcinoma, susceptibility to, 7,hepatocellular carcinoma,Adrenocortical carcinoma, hereditary |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.122 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail | |
0.369 | Li-Fraumeni syndrome | NA | CLINVAR | Detail | |
0.364 | Stomach Neoplasms | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) AND not specified | ClinVar | Detail |
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) AND Neoplasm of stomach | ClinVar | Detail |
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) AND Li-Fraumeni syndrome | ClinVar | Detail |
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) AND Li-Fraumeni syndrome 1 | ClinVar | Detail |
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) AND not provided | ClinVar | Detail |
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) AND Malignant tumor of breast | ClinVar | Detail |
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) AND multiple conditions | ClinVar | Detail |
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) AND multiple conditions | ClinVar | Detail |
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) AND multiple conditions | ClinVar | Detail |
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) AND multiple conditions | ClinVar | Detail |
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) AND multiple conditions | ClinVar | Detail |
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) AND multiple conditions | ClinVar | Detail |
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) AND multiple conditions | ClinVar | Detail |
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) AND multiple conditions | ClinVar | Detail |
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) AND multiple conditions | ClinVar | Detail |
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) AND multiple conditions | ClinVar | Detail |
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) AND multiple conditions | ClinVar | Detail |
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) AND multiple conditions | ClinVar | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | 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
- rs149633775 dbSNP
- Genome
- hg19
- Position
- chr17:7,577,091-7,577,091
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8622
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 120734
- Allele Counts in All Race (ExAC)
- 14
- Heterozygous Counts in All Race (ExAC)
- 14
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 1.159573939403979E-4
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