chr3:179204576:G>A Detail (hg38) (PIK3CA)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:178,922,364-178,922,364 View the variant detail on this assembly version. |
| hg38 | chr3:179,204,576-179,204,576 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_006218.3:c.1133G>A | NP_006209.2:p.Cys378Tyr |
| Ensemble | ENST00000263967.4:c.1133G>A | ENST00000263967.4:p.Cys378Tyr |
| ENST00000643187.1:c.1133G>A | ENST00000643187.1:p.Cys378Tyr |
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
|
2023-02-23 | criteria provided, multiple submitters, no conflicts | Megalencephaly-capillary malformation-polymicrogyria syndrome |
somatic
unknown
|
Detail |
|
Pathogenic
|
criteria provided, single submitter | PIK3CA related overgrowth syndrome |
de novo
somatic
|
Detail | |
|
Pathogenic
|
2023-08-30 | criteria provided, single submitter | Cowden syndrome |
germline
|
Detail |
|
Pathogenic
|
2022-08-30 | criteria provided, single submitter | PIK3CA-related disorder |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.360 | Megalencephaly cutis marmorata telangiectatica congenita | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_006218.4(PIK3CA):c.1133G>A (p.Cys378Tyr) AND Megalencephaly-capillary malformation-polymicrogyria... | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1133G>A (p.Cys378Tyr) AND PIK3CA related overgrowth syndrome | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1133G>A (p.Cys378Tyr) AND Cowden syndrome | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1133G>A (p.Cys378Tyr) AND PIK3CA-related disorder | 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
- rs397514565 dbSNP
- Genome
- hg38
- Position
- chr3:179,204,576-179,204,576
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser