chr3:179234286:G>T Detail (hg38) (PIK3CA)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:178,952,074-178,952,074 View the variant detail on this assembly version. |
| hg38 | chr3:179,234,286-179,234,286 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_006218.3:c.3129G>T | NP_006209.2:p.Met1043Ile |
| Ensemble | ENST00000263967.4:c.3129G>T | ENST00000263967.4:p.Met1043Ile |
| ENST00000643187.1:c.*209G>T |
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
|
criteria provided, single submitter | PIK3CA related overgrowth syndrome |
de novo
somatic
|
Detail | |
Likely pathogenic
|
2015-07-14 | no assertion criteria provided | Neoplasm of the large intestine |
somatic
|
Detail |
|
Pathogenic
|
2021-07-13 | criteria provided, single submitter | Cowden syndrome |
germline
|
Detail |
|
Pathogenic
|
2023-08-09 | criteria provided, single submitter | not provided |
germline
|
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.3129G>T (p.Met1043Ile) AND PIK3CA related overgrowth syndrome | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3129G>T (p.Met1043Ile) AND Neoplasm of the large intestine | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3129G>T (p.Met1043Ile) AND Cowden syndrome | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3129G>T (p.Met1043Ile) AND not provided | 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
- rs121913283 dbSNP
- Genome
- hg38
- Position
- chr3:179,234,286-179,234,286
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
- Variant (CIViC) (CIViC Variant)
- M1043I
- Transcript 1 (CIViC Variant)
- ENST00000263967.3
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/937
Genome browser