chr10:103090726:G>A Detail (hg38) (NT5C2)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr10:104,850,483-104,850,483 View the variant detail on this assembly version.
hg38	chr10:103,090,726-103,090,726

HGVS

NT5C2

Type	Transcript	Protein
RefSeq	NM_001134373.2:c.1334C>T	NP_001127845.1:p.Ser445Phe
	NM_012229.4:c.1334C>T	NP_036361.1:p.Ser445Phe
Ensemble	ENST00000674860.1:c.1358C>T	ENST00000674860.1:p.Ser453Phe
	ENST00000675326.1:c.1334C>T	ENST00000675326.1:p.Ser445Phe
	ENST00000343289.9:c.1334C>T	ENST00000343289.9:p.Ser445Phe
	ENST00000404739.8:c.1334C>T	ENST00000404739.8:p.Ser445Phe
	ENST00000674696.1:c.1334C>T	ENST00000674696.1:p.Ser445Phe
	ENST00000675645.1:c.1273-88C>T
	ENST00000675985.1:c.1247C>T	ENST00000675985.1:p.Ser416Phe
	ENST00000676428.1:c.1334C>T	ENST00000676428.1:p.Ser445Phe
	ENST00000676449.1:c.1334C>T	ENST00000676449.1:p.Ser445Phe

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	COSM4166466	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
childhood acute lymphocytic leukemia	Mercaptopurine,Thioguanine	D	Predictive	Supports	Resistance	Somatic	4	23377183	Detail
childhood acute lymphocytic leukemia	Cytarabine,Prednisolone,Gemcitabine,Doxorubicin	D	Predictive	Does Not Support	Resistance	Somatic	4	23377183	Detail
childhood acute lymphocytic leukemia		C	Prognostic	Supports	Poor Outcome	Somatic	2	23377183	Detail

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
Lentiviral-mediated overexpression of NT5C2 S445F in Reh cells resulted in significant resistance ag...	CIViC Evidence	Detail
Overexpression of NT5C2 S445F in Reh cells resulted in no change in response to cytarabine, gemcitab...	CIViC Evidence	Detail
71 Childhood B-cell acute lymphocytic leukemia relapse patients had their diagnosis and relapse samp...	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: chr10:103,090,726-103,090,726
Variant Type: snv
Reference Allele: G
Alternative Allele: A
Variant (CIViC) (CIViC Variant): S445F
Transcript 1 (CIViC Variant): ENST00000343289.5
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/2897

Genome browser