chr3:179218288:C>G Detail (hg38) (PIK3CA)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:178,936,076-178,936,076 View the variant detail on this assembly version. |
| hg38 | chr3:179,218,288-179,218,288 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_006218.3:c.1618C>G | NP_006209.2:p.Leu540Val |
| Ensemble | ENST00000263967.4:c.1618C>G | ENST00000263967.4:p.Leu540Val |
| ENST00000643187.1:c.1618C>G | ENST00000643187.1:p.Leu540Val |
Summary
MGeND
| Clinical significance |
Likely pathogenic
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Uncertain significance
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Likely pathogenic
|
2017/03/30 | cowden disease |
germline
|
MGS000001
(TMGS000137) |
Kenjiro Kosaki | Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Uncertain significance
|
2021-01-31 | criteria provided, single submitter | Cowden syndrome |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_006218.4(PIK3CA):c.1618C>G (p.Leu540Val) AND Cowden syndrome | ClinVar | 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
- rs2108408264 dbSNP
- Genome
- hg38
- Position
- chr3:179,218,288-179,218,288
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
Genome browser