chr4:55089802:C>T Detail (hg38) (KDR)

Information

Genome

Assembly Position
hg19 chr4:55,955,969-55,955,969 View the variant detail on this assembly version.
hg38 chr4:55,089,802-55,089,802

HGVS

Type Transcript Protein
RefSeq NM_002253.2:c.3193G>A NP_002244.1:p.Ala1065Thr
Ensemble ENST00000263923.5:c.3193G>A ENST00000263923.5:p.Ala1065Thr
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 191306 OMIM
HGNC 6307 HGNC
Ensembl ENSG00000128052 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM6005667 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
angiosarcoma Sunitinib,Sorafenib D Predictive Supports Sensitivity/Response Somatic 3 19723655 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
0.004 Non-small cell lung carcinoma Likewise, activating mutations in the receptor tyrosine kinase KDR (VEGFR2) have... BeFree 25679062 Detail
0.121 Hemangiosarcoma Likewise, activating mutations in the receptor tyrosine kinase KDR (VEGFR2) have... BeFree 25679062 Detail
Annotation

Annotations

DescrptionSourceLinks
COS-7 cells were transiently transfected with expression constructs encoding cDNAs for wild-type or ... CIViC Evidence Detail
Likewise, activating mutations in the receptor tyrosine kinase KDR (VEGFR2) have been reported in an... DisGeNET Detail
Likewise, activating mutations in the receptor tyrosine kinase KDR (VEGFR2) have been reported in an... DisGeNET 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
chr4:55,089,802-55,089,802
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8646
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121116
Allele Counts in All Race (ExAC)
54
Heterozygous Counts in All Race (ExAC)
54
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
4.4585356187456653E-4
Variant (CIViC) (CIViC Variant)
A1065T
Transcript 1 (CIViC Variant)
ENST00000263923.4
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/467
Genome browser