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 |
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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 |
---|---|---|---|---|---|---|---|---|---|
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colorectal neoplasms, hereditary nonpolyposis |
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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 |
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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