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

Go to:

Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

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

NT5C2

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
	ENST00000404739.8:c.1100G>A	ENST00000404739.8:p.Arg367Gln
	ENST00000674696.1:c.1100G>A	ENST00000674696.1:p.Arg367Gln
	ENST00000674860.1:c.1124G>A	ENST00000674860.1:p.Arg375Gln
	ENST00000675326.1:c.1100G>A	ENST00000675326.1:p.Arg367Gln
	ENST00000675645.1:c.1100G>A	ENST00000675645.1:p.Arg367Gln
	ENST00000675985.1:c.1013G>A	ENST00000675985.1:p.Arg338Gln
	ENST00000676428.1:c.1100G>A	ENST00000676428.1:p.Arg367Gln
	ENST00000676449.1:c.1100G>A	ENST00000676449.1: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

NT5C2

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

Descrption	Source	Links
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

Genome browser