chr10:87952117:G>A Detail (hg38) (PTEN)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr10:89,711,874-89,711,874 View the variant detail on this assembly version. |
| hg38 | chr10:87,952,117-87,952,117 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000314.6:c.493-1G>A | |
| NM_001304717.2:c.493-1G>A | ||
| NM_001304718.1:c.493-1G>A |
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
|
2016-02-04 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Pathogenic
|
2022-10-28 | criteria provided, single submitter | PTEN hamartoma tumor syndrome |
germline
|
Detail |
|
Pathogenic
|
2022-06-22 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Pathogenic
|
2021-07-01 | no assertion criteria provided | Gastric cancer |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.122 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000314.8(PTEN):c.493-1G>A AND not provided | ClinVar | Detail |
| NM_000314.8(PTEN):c.493-1G>A AND PTEN hamartoma tumor syndrome | ClinVar | Detail |
| NM_000314.8(PTEN):c.493-1G>A AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_000314.8(PTEN):c.493-1G>A AND Gastric cancer | ClinVar | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs786204862 dbSNP
- Genome
- hg38
- Position
- chr10:87,952,117-87,952,117
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser