Annotation Detail
Information
- Associated Genes
- MTR
- Associated Variants
-
SHMT1 p.Leu474Phe (p.L474F)
(
ENST00000316694.8,
ENST00000354098.7 )
MTR p.Leu474= (p.L474=) ( ENST00000681177.1, ENST00000366577.10, ENST00000535889.6, ENST00000681102.1, ENST00000674797.2, ENST00000679842.1 )
MTR p.Asp919Gly (p.D919G) ( ENST00000366577.10, ENST00000535889.6, ENST00000681177.1, ENST00000681102.1, ENST00000679842.1, ENST00000674797.2 )
SHMT1 p.Leu474Phe (p.L474F) ( ENST00000316694.8, ENST00000354098.7 )
MTR p.Leu474= (p.L474=) ( ENST00000366577.10, ENST00000535889.6, ENST00000674797.2, ENST00000679842.1, ENST00000681102.1, ENST00000681177.1 )
MTR p.Asp919Gly (p.D919G) ( ENST00000366577.10, ENST00000535889.6, ENST00000674797.2, ENST00000679842.1, ENST00000681102.1, ENST00000681177.1 ) - Associated Disease
- adult acute lymphocytic leukemia
- Source Database
- DisGeNET
- Description
- Polymorphisms in methionine synthase (MS A2756G), cytosolic serine hydroxymethyltransferase (SHMT1 C1420T), and a double (2R2R) or triple (3R3R) 28-bp tandem repeat in the promoter region of thymidylate synthase (TS) were studied and found to modulate ALL risk.
- Pubmed
- 11986237
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2002
Drugs