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

Go to:

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

Information

Genome

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

HGVS

NT5C2

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
	ENST00000404739.8:c.1075A>C	ENST00000404739.8:p.Lys359Gln
	ENST00000674696.1:c.1075A>C	ENST00000674696.1:p.Lys359Gln
	ENST00000674860.1:c.1099A>C	ENST00000674860.1:p.Lys367Gln
	ENST00000675326.1:c.1075A>C	ENST00000675326.1:p.Lys359Gln
	ENST00000675645.1:c.1075A>C	ENST00000675645.1:p.Lys359Gln
	ENST00000675985.1:c.988A>C	ENST00000675985.1:p.Lys330Gln
	ENST00000676428.1:c.1075A>C	ENST00000676428.1:p.Lys359Gln
	ENST00000676449.1:c.1075A>C	ENST00000676449.1: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

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	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

Descrption	Source	Links
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

Genome browser