chr3:179204536:G>A Detail (hg38) (PIK3CA)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:178,922,324-178,922,324 View the variant detail on this assembly version. |
| hg38 | chr3:179,204,536-179,204,536 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_006218.3:c.1093G>A | NP_006209.2:p.Glu365Lys |
| Ensemble | ENST00000263967.4:c.1093G>A | ENST00000263967.4:p.Glu365Lys |
| ENST00000643187.1:c.1093G>A | ENST00000643187.1:p.Glu365Lys |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2015-06-25 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Pathogenic
|
2018-12-01 | no assertion criteria provided | Neoplasm of ovary |
somatic
|
Detail |
|
Pathogenic
|
2023-02-20 | criteria provided, single submitter | Cowden syndrome |
de novo
germline
|
Detail |
|
Pathogenic
|
criteria provided, single submitter | Megalencephaly-capillary malformation-polymicrogyria syndrome |
somatic
|
Detail | |
|
Pathogenic
|
2021-03-18 | criteria provided, single submitter | Angioosteohypertrophic syndrome |
somatic
|
Detail |
|
Pathogenic
|
2023-02-02 | criteria provided, single submitter | PIK3CA-related disorder |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_006218.4(PIK3CA):c.1093G>A (p.Glu365Lys) AND not provided | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1093G>A (p.Glu365Lys) AND Neoplasm of ovary | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1093G>A (p.Glu365Lys) AND Cowden syndrome | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1093G>A (p.Glu365Lys) AND Megalencephaly-capillary malformation-polymicrogyria... | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1093G>A (p.Glu365Lys) AND Angioosteohypertrophic syndrome | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1093G>A (p.Glu365Lys) AND PIK3CA-related disorder | 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
- rs1064793732 dbSNP
- Genome
- hg38
- Position
- chr3:179,204,536-179,204,536
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser