chr15:66436816:G>C Detail (hg38) (MAP2K1)

Information

Genome

Assembly Position
hg19 chr15:66,729,154-66,729,154 View the variant detail on this assembly version.
hg38 chr15:66,436,816-66,436,816

HGVS

Type Transcript Protein
RefSeq NM_002755.3:c.362G>C NP_002746.1:p.Cys121Ser
Ensemble ENST00000307102.10:c.362G>C ENST00000307102.10:p.Cys121Ser
ENST00000685172.1:c.362G>C ENST00000685172.1:p.Cys121Ser
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic 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 COSM1315829 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2015-07-14 no assertion criteria provided lung adenocarcinoma somatic Detail
Pathogenic 2014-10-02 no assertion criteria provided melanoma somatic Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
melanoma Vemurafenib C Predictive Supports Resistance Somatic 4 21383288 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
A patient with BRAF-mutant melanoma relapsed after treatment with PLX4032 (vemurafenib). The MAP2K1 ... CIViC Evidence Detail
NM_002755.4(MAP2K1):c.362G>C (p.Cys121Ser) AND Lung adenocarcinoma ClinVar Detail
NM_002755.4(MAP2K1):c.362G>C (p.Cys121Ser) AND Melanoma 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
-
dbSNP
rs1057519731 dbSNP
Genome
hg38
Position
chr15:66,436,816-66,436,816
Variant Type
snv
Reference Allele
G
Alternative Allele
C
Variant (CIViC) (CIViC Variant)
C121S
Transcript 1 (CIViC Variant)
ENST00000307102.5
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/627
Genome browser