chr17:7578532:A>G Detail (hg19) (TP53)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:7,578,532-7,578,532 |
hg38 | chr17:7,675,214-7,675,214 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001126117.1:c.-80T>C | |
NM_001276699.1:c.-80T>C | ||
NM_001126118.1:c.281T>C | NP_001119590.1:p.Met94Thr |
Summary
MGeND
Clinical significance |
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Variant entry | 7 |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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oesophagus, unspecified |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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Myelodysplastic syndromes |
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MGS000005
(TMGS000006) |
Keizo Horibe | National Hospital Organization Nagoya Medical Center | ||||
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Adenocarcinoma of small intestine (disorder) |
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MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
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oesophagus, unspecified |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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malignant neoplasm of rectum |
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MGS000042
(TMGS000093) |
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 | ||||
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body of pancreas |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2022-06-18 | criteria provided, single submitter | Li-Fraumeni syndrome 1 |
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Detail |
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2023-10-26 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
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Detail |
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2021-06-09 | criteria provided, single submitter | Li-Fraumeni syndrome |
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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 | |
0.005 | Acute Erythroblastic Leukemia | In conclusion, persistently active STAT5 can recruit normal p53, like in the cas... | BeFree | 24681953 | Detail |
0.441 | Li-Fraumeni syndrome 1 | We report here on the identification of a p53 germ line mutation at codon 133 (A... | UNIPROT | 1933902 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000546.6(TP53):c.398T>C (p.Met133Thr) AND Li-Fraumeni syndrome 1 | ClinVar | Detail |
NM_000546.6(TP53):c.398T>C (p.Met133Thr) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000546.6(TP53):c.398T>C (p.Met133Thr) AND Li-Fraumeni syndrome | ClinVar | Detail |
NA | DisGeNET | Detail |
In conclusion, persistently active STAT5 can recruit normal p53, like in the case of MPN cells, but ... | DisGeNET | Detail |
We report here on the identification of a p53 germ line mutation at codon 133 (ATG----ACG) in nine m... | 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
- rs28934873 dbSNP
- Genome
- hg19
- Position
- chr17:7,578,532-7,578,532
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
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