chr17:7578518:C>G Detail (hg19) (TP53)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:7,578,518-7,578,518 |
| hg38 | chr17:7,675,200-7,675,200 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001126116.1:c.16G>C | NP_001119588.1:p.Ala6Pro |
| NM_001276698.1:c.16G>C | NP_001263627.1:p.Ala6Pro | |
| NM_000546.5:c.412G>C | NP_000537.3:p.Ala138Pro |
Summary
MGeND
| Clinical significance |
not provided
|
| Variant entry | 5 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Pathogenic
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
not provided
|
bronchus or lung, unspecified |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
descending colon |
not provided
|
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
colorectal cancer |
somatic
|
MGS000018
(TMGS000110) |
Hitoshi Nakagama | National Cancer Center Japan |
30742731
|
|||
|
not provided
|
sigmoid colon |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
1998-04-01 | no assertion criteria provided | Li-Fraumeni syndrome 1 |
germline
|
Detail |
|
Likely pathogenic
|
2020-01-01 | criteria provided, single submitter | Li-Fraumeni syndrome |
germline
|
Detail |
|
Pathogenic
|
2021-01-15 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.441 | Li-Fraumeni syndrome 1 | 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.412G>C (p.Ala138Pro) AND Li-Fraumeni syndrome 1 | ClinVar | Detail |
| NM_000546.6(TP53):c.412G>C (p.Ala138Pro) AND Li-Fraumeni syndrome | ClinVar | Detail |
| NM_000546.6(TP53):c.412G>C (p.Ala138Pro) AND Hereditary cancer-predisposing syndrome | ClinVar | 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
- rs28934875 dbSNP
- Genome
- hg19
- Position
- chr17:7,578,518-7,578,518
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
Genome browser