chr3:178936116:GT>C Detail (hg19) (PIK3CA)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:178,936,116-178,936,117 |
| hg38 | chr3:179,218,328-179,218,329 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_006218.3:c.1658_1659delinsC | NP_006209.2:p.Ser553ThrfsTer7 |
| Ensemble | ENST00000263967.4:c.1658_1659delinsC | ENST00000263967.4:p.Ser553ThrfsTer7 |
| ENST00000643187.1:c.1658_1659delinsC | ENST00000643187.1:p.Ser553ThrfsTer7 |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance | no classification for the single variant |
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2013-01-10 | no assertion criteria provided | Cowden syndrome 5 |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.240 | Cowden syndrome 5 | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_006218.3(PIK3CA):c.[1634A>C;1658_1659delGTinsC] AND Cowden syndrome 5 | 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
- rs587777795 dbSNP
- Genome
- hg19
- Position
- chr3:178,936,116-178,936,117
- Variant Type
- snv
- Reference Allele
- GT
- Alternative Allele
- C
Genome browser