chr17:7578388:C>A Detail (hg19) (TP53)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:7,578,388-7,578,388 |
hg38 | chr17:7,675,070-7,675,070 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000546.5:c.542G>T | NP_000537.3:p.Arg181Leu |
NM_001126112.2:c.542G>T | NP_001119584.1:p.Arg181Leu | |
NM_001276760.1:c.542G>T | NP_001263689.1:p.Arg181Leu |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance |
![]() |
Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.122 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail | |
0.369 | Li-Fraumeni syndrome | NA | CLINVAR | Detail | |
0.120 | Glioma susceptibility 1 | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000546.6(TP53):c.542G>T (p.Arg181Leu) AND Glioma susceptibility 1 | ClinVar | Detail |
NM_000546.6(TP53):c.542G>T (p.Arg181Leu) AND Li-Fraumeni syndrome | ClinVar | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | 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
- rs397514495 dbSNP
- Genome
- hg19
- Position
- chr17:7,578,388-7,578,388
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
Genome browser