chr10:89717777:G>A Detail (hg19) (PTEN)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr10:89,717,777-89,717,777 |
| hg38 | chr10:87,958,020-87,958,020 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000314.6:c.801+1G>A | |
| NM_001304717.2:c.801+1G>A | ||
| NM_001304718.1:c.801+1G>A |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Pathogenic
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2023-06-21 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Pathogenic
|
2021-04-23 | criteria provided, single submitter | PTEN hamartoma tumor syndrome |
germline
|
Detail |
|
Likely pathogenic
|
2023-09-29 | criteria provided, single submitter | Cowden syndrome 1 |
unknown
|
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.801+1G>A AND not provided | ClinVar | Detail |
| NM_000314.8(PTEN):c.801+1G>A AND PTEN hamartoma tumor syndrome | ClinVar | Detail |
| NM_000314.8(PTEN):c.801+1G>A AND Cowden syndrome 1 | ClinVar | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs786204873 dbSNP
- Genome
- hg19
- Position
- chr10:89,717,777-89,717,777
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser