chr10:103090726:G>A Detail (hg38) (NT5C2)

Information

Genome

Assembly Position
hg19 chr10:104,850,483-104,850,483 View the variant detail on this assembly version.
hg38 chr10:103,090,726-103,090,726

HGVS

Type Transcript Protein
RefSeq NM_001134373.2:c.1334C>T NP_001127845.1:p.Ser445Phe
NM_012229.4:c.1334C>T NP_036361.1:p.Ser445Phe
Ensemble ENST00000674860.1:c.1358C>T ENST00000674860.1:p.Ser453Phe
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 600417 OMIM
HGNC 8022 HGNC
Ensembl ENSG00000076685 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM4166466 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
childhood acute lymphocytic leukemia Mercaptopurine,Thioguanine D Predictive Supports Resistance Somatic 4 23377183 Detail
childhood acute lymphocytic leukemia Cytarabine,Prednisolone,Gemcitabine,Doxorubicin D Predictive Does Not Support Resistance Somatic 4 23377183 Detail
childhood acute lymphocytic leukemia C Prognostic Supports Poor Outcome Somatic 2 23377183 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
Lentiviral-mediated overexpression of NT5C2 S445F in Reh cells resulted in significant resistance ag... CIViC Evidence Detail
Overexpression of NT5C2 S445F in Reh cells resulted in no change in response to cytarabine, gemcitab... CIViC Evidence Detail
71 Childhood B-cell acute lymphocytic leukemia relapse patients had their diagnosis and relapse samp... 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
-
Genome
hg38
Position
chr10:103,090,726-103,090,726
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Variant (CIViC) (CIViC Variant)
S445F
Transcript 1 (CIViC Variant)
ENST00000343289.5
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/2897
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