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 Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 176872 OMIM
HGNC 6840 HGNC
Ensembl ENSG00000169032 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2023-09-11 criteria provided, single submitter Vascular malformation somatic Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
ovarian serous carcinoma Selumetinib C Predictive Supports Sensitivity/Response Somatic 4 26324360 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
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
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