chr11:9599943:A>G Detail (hg19) (WEE1)

Information

Genome

Assembly Position
hg19 chr11:9,599,943-9,599,943
hg38 chr11:9,578,396-9,578,396 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_003390.3:c.1141+1133A>G
NM_001143976.1:c.499+1133A>G
Ensemble ENST00000450114.7:c.1141+1133A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.654
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 193525 OMIM
HGNC 12761 HGNC
Ensembl ENSG00000166483 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv41587555 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
lung non-small cell carcinoma Gemcitabine,Platinum Compound B Predictive Supports Sensitivity/Response Common Germline 3 26057002 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
The presence of the WEE1 polymorphism rs3910384 correlated with OS and PFS of NSCLC patients treated... CIViC Evidence Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3910384 dbSNP
Genome
hg19
Position
chr11:9,599,943-9,599,943
Variant Type
snv
Reference Allele
A
Alternative Allele
G
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs3910384
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6543
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
10964
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
Variant (CIViC) (CIViC Variant)
RS3910384
Transcript 1 (CIViC Variant)
ENST00000450114.2
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/331
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