chr10:87961047:ACTT> Detail (hg38) (PTEN)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr10:89,720,804-89,720,807 |
| hg38 | chr10:87,961,047-87,961,050 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000314.6:c.955_958delACTT | NP_000305.3:p.Thr319Ter |
| NM_001304717.2:c.955_958delACTT | NP_001291646.2:p.Thr319Ter | |
| NM_001304718.1:c.955_958delACTT | NP_001291647.1:p.Thr319Ter |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
colorectal neoplasms, hereditary nonpolyposis |
somatic
|
MGS000043
(TMGS000096) |
Kohei Miyazono | Tokyo University |
ClinVar
[No Data.]
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| skin melanoma | MEK Inhibitor CI-1040,Akt Inhibitor MK2206 | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 3 | 24504448 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| A 26-year old patient presented with vemurafenib resistant BRAF V600E-mutated cutaneous melanoma. Fi... | CIViC Evidence | 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
- -
- Genome
- hg38
- Position
- chr10:87,961,047-87,961,050
- Variant Type
- snv
- Reference Allele
- ACTT
- Alternative Allele
- -
- Variant (CIViC) (CIViC Variant)
- V317FS
- Transcript 1 (CIViC Variant)
- ENST00000371953.3
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/605
Genome browser