chr17:7579373:C>T Detail (hg19) (TP53)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:7,579,373-7,579,373 |
| hg38 | chr17:7,676,055-7,676,055 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000546.5:c.314G>A | NP_000537.3:p.Gly105Asp |
| NM_001126112.2:c.314G>A | NP_001119584.1:p.Gly105Asp | |
| NM_001276760.1:c.314G>A | NP_001263689.1:p.Gly105Asp |
Summary
MGeND
| Clinical significance |
not provided
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Uncertain significance
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
not provided
|
ascending colon |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Uncertain significance
|
2022-06-18 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Uncertain significance
|
2021-08-27 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Uncertain significance
|
2023-09-06 | criteria provided, multiple submitters, no conflicts | Li-Fraumeni syndrome |
germline
|
Detail |
|
Uncertain significance
|
2022-06-18 | criteria provided, single submitter | Li-Fraumeni syndrome 1 |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.122 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000546.6(TP53):c.314G>A (p.Gly105Asp) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_000546.6(TP53):c.314G>A (p.Gly105Asp) AND not provided | ClinVar | Detail |
| NM_000546.6(TP53):c.314G>A (p.Gly105Asp) AND Li-Fraumeni syndrome | ClinVar | Detail |
| NM_000546.6(TP53):c.314G>A (p.Gly105Asp) AND Li-Fraumeni syndrome 1 | 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
- rs587781504 dbSNP
- Genome
- hg19
- Position
- chr17:7,579,373-7,579,373
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser