chr18:657657:GGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCCC>CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG Detail (hg19) (TYMS)

Information

Genome

Assembly Position
hg19 chr18:657,657-657,730
hg38 chr18:657,657-657,730 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001071.2:c.-86_-13delinsCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG
Ensemble ENST00000323274.15:c.-86_-13delinsCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 188350 OMIM
HGNC 12441 HGNC
Ensembl ENSG00000176890 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.011 colorectal cancer Results for other variants varied across individual studies; in our meta-analyse... BeFree 23401104 Detail
0.033 colorectal carcinoma Results for other variants varied across individual studies; in our meta-analyse... BeFree 23401104 Detail
0.001 colorectal carcinoma Results for other variants varied across individual studies; in our meta-analyse... BeFree 23401104 Detail
0.112 colorectal cancer Results for other variants varied across individual studies; in our meta-analyse... BeFree 23401104 Detail
<0.001 stomatitis MTX AUC0-48h was a significant predictor of overall toxic adverse events during ... BeFree 23652803 Detail
Annotation

Annotations

DescrptionSourceLinks
Results for other variants varied across individual studies; in our meta-analyses we observed some e... DisGeNET Detail
Results for other variants varied across individual studies; in our meta-analyses we observed some e... DisGeNET Detail
Results for other variants varied across individual studies; in our meta-analyses we observed some e... DisGeNET Detail
Results for other variants varied across individual studies; in our meta-analyses we observed some e... DisGeNET Detail
MTX AUC0-48h was a significant predictor of overall toxic adverse events during MTX courses (R(2) = ... 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
-
dbSNP
rs34743033 dbSNP
Genome
hg19
Position
chr18:657,657-657,730
Variant Type
snv
Reference Allele
GGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCCC
Alternative Allele
CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG
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