chr3:178952018:A>G Detail (hg19) (PIK3CA)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:178,952,018-178,952,018 |
| hg38 | chr3:179,234,230-179,234,230 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_006218.3:c.3073A>G | NP_006209.2:p.Thr1025Ala |
| Ensemble | ENST00000263967.4:c.3073A>G | ENST00000263967.4:p.Thr1025Ala |
| ENST00000643187.1:c.*153A>G |
Summary
MGeND
| Clinical significance |
not provided
|
| Variant entry | 1 |
| 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
|
Malignant tumor of unknown origin (disorder) |
unknown
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2011-08-10 | criteria provided, single submitter | Non-small cell lung carcinoma |
somatic
|
Detail |
|
Pathogenic
|
2021-06-06 | no assertion criteria provided | CLOVES syndrome |
somatic
|
Detail |
|
Pathogenic
Likely pathogenic
|
2022-09-22 | criteria provided, multiple submitters, no conflicts | not provided |
germline
somatic
|
Detail |
|
Likely pathogenic
|
2023-09-07 | criteria provided, single submitter | PIK3CA related overgrowth syndrome |
somatic
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.137 | Non-small cell lung carcinoma | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_006218.4(PIK3CA):c.3073A>G (p.Thr1025Ala) AND Non-small cell lung carcinoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3073A>G (p.Thr1025Ala) AND CLOVES syndrome | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3073A>G (p.Thr1025Ala) AND not provided | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3073A>G (p.Thr1025Ala) AND PIK3CA related overgrowth syndrome | 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
- rs397517202 dbSNP
- Genome
- hg19
- Position
- chr3:178,952,018-178,952,018
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
Genome browser