chr17:7579424:G> Detail (hg19) (TP53)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:7,579,424-7,579,424 |
| hg38 | chr17:7,676,106-7,676,106 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001126113.2:c.263delC | NP_001119585.1:p.Ser90ProfsTer33 |
| NM_001276695.1:c.263delC | NP_001263624.1:p.Ser90ProfsTer33 | |
| NM_001126118.1:c.146delC | NP_001119590.1:p.Ser51ProfsTer33 |
Summary
MGeND
| Clinical significance |
Likely pathogenic
not provided
|
| Variant entry | 3 |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
not provided
|
Myelodysplastic syndromes |
somatic
|
MGS000005
(TMGS000006) |
Keizo Horibe | National Hospital Organization Nagoya Medical Center | ||||
|
Likely pathogenic
|
Squamous cell carcinoma of esophagus (disorder) |
unknown
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
pancreatic cancer |
somatic
|
MGS000018
(TMGS000110) |
Hitoshi Nakagama | National Cancer Center Japan |
30742731
|
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2024-02-12 | criteria provided, single submitter | Li-Fraumeni syndrome 1 |
germline
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.441 | Li-Fraumeni syndrome 1 | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000546.6(TP53):c.267del (p.Ser90fs) 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
- rs587783062 dbSNP
- Genome
- hg19
- Position
- chr17:7,579,424-7,579,424
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- -
Genome browser