chr10:103093223:T>G Detail (hg38) (NT5C2)

Information

Genome

Assembly Position
hg19 chr10:104,852,980-104,852,980 View the variant detail on this assembly version.
hg38 chr10:103,093,223-103,093,223

HGVS

Type Transcript Protein
RefSeq NM_001134373.2:c.1075A>C NP_001127845.1:p.Lys359Gln
NM_012229.4:c.1075A>C NP_036361.1:p.Lys359Gln
Ensemble ENST00000343289.9:c.1075A>C ENST00000343289.9:p.Lys359Gln
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance not provided
Review star
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 COSM4166187 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
not provided 2016-03-10 no assertion provided Lymphoblastic leukemia, acute, with lymphomatous features somatic Detail
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
acute lymphoblastic leukemia B Prognostic Supports Poor Outcome Somatic 4 23377281 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
CCRF-CEM and to a lesser extent CUTLL1 T-ALL cell lines expressing the NT5C2 K359Q 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
The K359Q somatic mutation was significantly correlated with early disease recurrence and relapse in... CIViC Evidence Detail
NM_001351169.2(NT5C2):c.1075A>C (p.Lys359Gln) AND Lymphoblastic leukemia, acute, with lymphomatous f... ClinVar 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
rs1057519867 dbSNP
Genome
hg38
Position
chr10:103,093,223-103,093,223
Variant Type
snv
Reference Allele
T
Alternative Allele
G
Variant (CIViC) (CIViC Variant)
K359Q
Transcript 1 (CIViC Variant)
ENST00000343289.5
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/239
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