chr15:66435111:CCAGAAGCAGAAGGT> Detail (hg38) (MAP2K1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr15:66,727,449-66,727,463 |
hg38 | chr15:66,435,111-66,435,125 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_002755.3:c.165_179delCCAGAAGCAGAAGGT | NP_002746.1:p.Gln56_Val60del |
Ensemble | ENST00000307102.10:c.165_179delCCAGAAGCAGAAGGT | ENST00000307102.10:p.Gln56_Val60del |
ENST00000685172.1:c.165_179delCCAGAAGCAGAAGGT | ENST00000685172.1:p.Gln56_Val60del |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance |
![]() |
Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
![]() |
2023-09-11 | criteria provided, single submitter | Vascular malformation |
![]() |
Detail |
CIViC
Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
---|---|---|---|---|---|---|---|---|---|
ovarian serous carcinoma | Selumetinib | C |
![]() |
![]() |
Sensitivity/Response | Somatic | 4 | 26324360 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
Case report of a 51-year old patient with recurrent low-grade serous ovarian cancer. Selumetinib tre... | CIViC Evidence | Detail |
NM_002755.4(MAP2K1):c.165_179del (p.Gln56_Val60del) AND Vascular malformation | ClinVar | 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
- chr15:66,435,111-66,435,125
- Variant Type
- snv
- Reference Allele
- CCAGAAGCAGAAGGT
- Alternative Allele
- -
- Variant (CIViC) (CIViC Variant)
- Q56_V60del
- Transcript 1 (CIViC Variant)
- ENST00000307102.5
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/655
Genome browser