chr15:66727455:G>C Detail (hg19) (MAP2K1)

Information

Genome

Assembly Position
hg19 chr15:66,727,455-66,727,455
hg38 chr15:66,435,117-66,435,117 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_002755.3:c.171G>C NP_002746.1:p.Lys57Asn
Ensemble ENST00000307102.10:c.171G>C ENST00000307102.10:p.Lys57Asn
ENST00000692683.1:c.105G>C ENST00000692683.1:p.Lys35Asn
Summary

MGeND

Clinical significance not provided
Variant entry 4
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 COSM5520914 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided duodenum not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided duodenum not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided colon, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided bronchus or lung, unspecified not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2016-05-31 no assertion criteria provided Malignant melanoma of skin somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided non-Hodgkin lymphoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Squamous cell carcinoma of the head and neck somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided gastric adenocarcinoma somatic Detail
Likely pathogenic 2014-12-26 no assertion criteria provided melanoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided prostate adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided lung adenocarcinoma somatic Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_002755.4(MAP2K1):c.171G>C (p.Lys57Asn) AND Malignant melanoma of skin ClinVar Detail
NM_002755.4(MAP2K1):c.171G>C (p.Lys57Asn) AND Non-Hodgkin lymphoma ClinVar Detail
NM_002755.4(MAP2K1):c.171G>C (p.Lys57Asn) AND Squamous cell carcinoma of the head and neck ClinVar Detail
NM_002755.4(MAP2K1):c.171G>C (p.Lys57Asn) AND Gastric adenocarcinoma ClinVar Detail
NM_002755.4(MAP2K1):c.171G>C (p.Lys57Asn) AND Melanoma ClinVar Detail
NM_002755.4(MAP2K1):c.171G>C (p.Lys57Asn) AND Prostate adenocarcinoma ClinVar Detail
NM_002755.4(MAP2K1):c.171G>C (p.Lys57Asn) AND Lung adenocarcinoma 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
rs869025608 dbSNP
Genome
hg19
Position
chr15:66,727,455-66,727,455
Variant Type
snv
Reference Allele
G
Alternative Allele
C
Genome browser