chr10:87864539:G>T Detail (hg38) (PTEN)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr10:89,624,296-89,624,296 View the variant detail on this assembly version. |
| hg38 | chr10:87,864,539-87,864,539 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001304718.1:c.70G>T | NP_001291647.1:p.Asp24Tyr |
| NM_000314.6:c.70G>T | NP_000305.3:p.Asp24Tyr | |
| NM_001304717.2:c.70G>T | NP_001291646.2:p.Asp24Tyr |
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
|
2016-07-13 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Pathogenic
|
2023-09-25 | criteria provided, single submitter | Cowden syndrome 1 |
unknown
|
Detail |
|
Pathogenic
|
2024-01-04 | criteria provided, single submitter | PTEN-related disorder |
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.70G>T (p.Asp24Tyr) AND not provided | ClinVar | Detail |
| NM_000314.8(PTEN):c.70G>T (p.Asp24Tyr) AND Cowden syndrome 1 | ClinVar | Detail |
| NM_000314.8(PTEN):c.70G>T (p.Asp24Tyr) AND PTEN-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
- rs786201995 dbSNP
- Genome
- hg38
- Position
- chr10:87,864,539-87,864,539
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
Genome browser