chr17:7577511:A>C Detail (hg19) (TP53)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:7,577,511-7,577,511 |
| hg38 | chr17:7,674,193-7,674,193 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001126116.1:c.374T>G | NP_001119588.1:p.Leu125Arg |
| NM_001276698.1:c.374T>G | NP_001263627.1:p.Leu125Arg | |
| NM_000546.5:c.770T>G | NP_000537.3:p.Leu257Arg |
Summary
MGeND
| Clinical significance |
Likely pathogenic
not provided
|
| Variant entry | 3 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|
|
Likely pathogenic
|
Hepatocellular carcinoma (morphologic abnormality) |
unknown
|
MGS000025
(TMGS000084) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
fundus of stomach |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
tail of pancreas |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2019-12-11 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
Uncertain significance
|
2022-07-05 | criteria provided, single submitter | Li-Fraumeni syndrome |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.122 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail | |
| 0.126 | Li-fraumeni-like syndrome | NA | CLINVAR | Detail | |
| 0.441 | Li-Fraumeni syndrome 1 | Database of mutations in the p53 and APC tumor suppressor genes designed to faci... | UNIPROT | 8829653 | Detail |
| 0.441 | Li-Fraumeni syndrome 1 | p53 mutations in human cancers. | UNIPROT | 1905840 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000546.6(TP53):c.770T>G (p.Leu257Arg) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_000546.6(TP53):c.770T>G (p.Leu257Arg) AND Li-Fraumeni syndrome | ClinVar | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Database of mutations in the p53 and APC tumor suppressor genes designed to facilitate molecular epi... | DisGeNET | Detail |
| p53 mutations in human cancers. | 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
- rs28934577 dbSNP
- Genome
- hg19
- Position
- chr17:7,577,511-7,577,511
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
Genome browser