Annotation Detail

Information
Associated Genes
NT5C2
Associated Variants
NT5C2 p.Lys367Gln (p.K367Q) ( ENST00000343289.9, ENST00000675645.1, ENST00000676449.1, ENST00000675985.1, ENST00000674696.1, ENST00000674860.1, ENST00000675326.1, ENST00000676428.1, ENST00000404739.8 )
NT5C2 p.Lys367Gln (p.K367Q) ( ENST00000343289.9, ENST00000404739.8, ENST00000674696.1, ENST00000674860.1, ENST00000675326.1, ENST00000675645.1, ENST00000675985.1, ENST00000676428.1, ENST00000676449.1 )
Associated Disease
Lymphoblastic leukemia, acute, with lymphomatous features
Source Database
ClinVar
Description
NM_001351169.2(NT5C2):c.1075A>C (p.Lys359Gln) AND Lymphoblastic leukemia, acute, with lymphomatous features
ClinVar Allele ID
363229
ClinVar RefSeq Alternation Syntax
NM_001351176.2:c.502A>C
ClinVar RefSeq Alternation Syntax
NM_001351196.2:c.361A>C
ClinVar RefSeq Alternation Syntax
NM_001351191.1:c.502A>C
ClinVar RefSeq Alternation Syntax
NM_001351174.1:c.988A>C
ClinVar RefSeq Alternation Syntax
NM_001351179.2:c.502A>C
ClinVar RefSeq Alternation Syntax
NM_001351183.2:c.502A>C
ClinVar RefSeq Alternation Syntax
NM_001351189.2:c.502A>C
ClinVar RefSeq Alternation Syntax
NM_001351180.2:c.502A>C
ClinVar RefSeq Alternation Syntax
NM_001351171.2:c.1099A>C
ClinVar RefSeq Alternation Syntax
NM_001351170.2:c.1099A>C
ClinVar RefSeq Alternation Syntax
NM_001351192.1:c.502A>C
ClinVar RefSeq Alternation Syntax
NM_012229.5:c.1075A>C
ClinVar RefSeq Alternation Syntax
NM_001351173.2:c.1099A>C
ClinVar RefSeq Alternation Syntax
NM_001351178.2:c.502A>C
ClinVar RefSeq Alternation Syntax
NM_001351184.2:c.502A>C
ClinVar RefSeq Alternation Syntax
NM_001351169.2:c.1075A>C
ClinVar RefSeq Alternation Syntax
NM_001351172.2:c.1099A>C
ClinVar RefSeq Alternation Syntax
NM_001351188.2:c.502A>C
ClinVar RefSeq Alternation Syntax
NM_001351190.2:c.502A>C
ClinVar RefSeq Alternation Syntax
NM_001351193.1:c.502A>C
ClinVar RefSeq Alternation Syntax
NM_001351194.2:c.361A>C
ClinVar RefSeq Alternation Syntax
NM_001351197.2:c.502A>C
ClinVar RefSeq Alternation Syntax
NM_001351175.2:c.982A>C
ClinVar RefSeq Alternation Syntax
NM_001351181.2:c.502A>C
ClinVar RefSeq Alternation Syntax
NM_001351187.2:c.502A>C
ClinVar RefSeq Alternation Syntax
NM_001351185.2:c.502A>C
ClinVar RefSeq Alternation Syntax
NM_001351177.2:c.502A>C
ClinVar RefSeq Alternation Syntax
NM_001351195.2:c.361A>C
ClinVar RefSeq Alternation Syntax
NM_001351182.2:c.502A>C
ClinVar RefSeq Alternation Syntax
NM_001134373.3:c.1075A>C
ClinVar RefSeq Alternation Syntax
NM_001351186.2:c.502A>C
Clinical Significance Description
not provided
Clinical Significance Last Update
2016-03-10
Clinical Significance Review Status
no assertion provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000441855
ClinVar Disease
Lymphoblastic leukemia, acute, with lymphomatous features
Observed Origin Sample
somatic
Drugs