chr10:104850745:T>G Detail (hg19) (NT5C2)

Information

Genome

Assembly Position
hg19 chr10:104,850,745-104,850,745
hg38 chr10:103,090,988-103,090,988 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001134373.2:c.1220A>C NP_001127845.1:p.Asp407Ala
NM_012229.4:c.1220A>C NP_036361.1:p.Asp407Ala
Ensemble ENST00000676428.1:c.1220A>C ENST00000676428.1:p.Asp407Ala
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 COSM4166190 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
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
CCRF-CEM and to a lesser extent CUTLL1 T-ALL cell lines expressing the NT5C2 D407A 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

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
hg19
Position
chr10:104,850,745-104,850,745
Variant Type
snv
Reference Allele
T
Alternative Allele
G
Variant (CIViC) (CIViC Variant)
D407A
Transcript 1 (CIViC Variant)
ENST00000343289.5
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/240
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