chr10:87933036:C>G Detail (hg38) (PTEN)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr10:89,692,793-89,692,793 View the variant detail on this assembly version. |
| hg38 | chr10:87,933,036-87,933,036 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000314.6:c.277C>G | NP_000305.3:p.His93Asp |
| NM_001304717.2:c.277C>G | NP_001291646.2:p.His93Asp | |
| NM_001304718.1:c.277C>G | NP_001291647.1:p.His93Asp |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2023-03-23 | criteria provided, single submitter | PTEN hamartoma tumor syndrome |
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.277C>G (p.His93Asp) AND PTEN hamartoma tumor syndrome | 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
- rs786204927 dbSNP
- Genome
- hg38
- Position
- chr10:87,933,036-87,933,036
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
Genome browser