chr4:55094892:G>A Detail (hg38) (KDR)

Information

Genome

Assembly Position
hg19 chr4:55,961,059-55,961,059 View the variant detail on this assembly version.
hg38 chr4:55,094,892-55,094,892

HGVS

Type Transcript Protein
RefSeq NM_002253.2:c.2881C>T NP_002244.1:p.Arg961Trp
Ensemble ENST00000263923.5:c.2881C>T ENST00000263923.5:p.Arg961Trp
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
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 tgv17047231 TogoVar
COSMIC COSM213169 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
colorectal adenocarcinoma Regorafenib C Predictive Supports Sensitivity/Response Somatic 1 27004155 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
Case Report of a 84-year-old woman with stage IVb CRC after progression under 5-fluorouracil and bev... CIViC Evidence 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
rs530419081 dbSNP
Genome
hg38
Position
chr4:55,094,892-55,094,892
Variant Type
snv
Reference Allele
G
Alternative Allele
A
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
VQSRTrancheSNP99.60to99.80
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs530419081
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8648
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1563367252543941E-4
Chromosome Counts in All Race (ExAC)
121344
Allele Counts in All Race (ExAC)
8
Heterozygous Counts in All Race (ExAC)
8
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
6.592827004219409E-5
Variant (CIViC) (CIViC Variant)
R961W
Transcript 1 (CIViC Variant)
ENST00000263923.4
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/502
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