chr10:103093198:C>T Detail (hg38) (NT5C2)

Information

Genome

Assembly Position
hg19 chr10:104,852,955-104,852,955 View the variant detail on this assembly version.
hg38 chr10:103,093,198-103,093,198

HGVS

Type Transcript Protein
RefSeq NM_001134373.2:c.1100G>A NP_001127845.1:p.Arg367Gln
NM_012229.4:c.1100G>A NP_036361.1:p.Arg367Gln
Ensemble ENST00000343289.9:c.1100G>A ENST00000343289.9:p.Arg367Gln
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 COSM914303 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
T-cell acute lymphoblastic leukemia Mercaptopurine,Thioguanine D Predictive Supports Resistance Somatic 4 23377281 Detail
T-cell acute lymphoblastic leukemia Nelarabine,Arabinosylguanine D Predictive Does Not Support Resistance Somatic 4 23377281 Detail
childhood acute lymphocytic leukemia Thioguanine,Mercaptopurine C Predictive Supports Resistance Somatic 2 23377183 Detail
childhood acute lymphocytic leukemia Doxorubicin,Cytarabine,Gemcitabine,Prednisolone D Predictive Does Not Support Resistance Somatic 4 23377183 Detail
childhood acute lymphocytic leukemia Thioguanine,Mercaptopurine D Predictive Supports Resistance Somatic 4 23377183 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
CCRF-CEM and to a lesser extent CUTLL1 T-ALL cell lines expressing the NT5C2 R367Q mutation had incr... CIViC Evidence Detail
CCRF-CEM and CUTLL1 T-ALL cell lines expressing NT5C2 mutant proteins (K359Q, R367Q or D407A) observ... CIViC Evidence Detail
71 Childhood B-cell acute lymphocytic leukemia relapse patients had their diagnosis and relapse samp... CIViC Evidence Detail
Lentiviral mediated overexpression of NT5C2 R367Q in Reh cells resulted in no change in apoptosis af... CIViC Evidence Detail
Lentiviral-mediated overexpression of NT5C2 R367Q in Reh cells resulted in significant resistance ag... 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
chr10:103,093,198-103,093,198
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Variant (CIViC) (CIViC Variant)
R367Q
Transcript 1 (CIViC Variant)
ENST00000343289.5
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/238
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