Annotation Detail
Information
- Associated Genes
- SLC19A1
- Associated Variants
-
SLC19A1 MUTATION
SLC19A1 MUTATION
FOLH1 p.Arg536Trp (p.R536W) ( ENST00000533034.1, ENST00000256999.7, ENST00000356696.7, ENST00000340334.11 )
SHMT1 p.Leu474Phe (p.L474F) ( ENST00000316694.8, ENST00000354098.7 )
SLC19A1 p.Ala344Val (p.A344V) ( ENST00000311124.9, ENST00000380010.8, ENST00000485649.3, ENST00000567670.5, ENST00000650808.1 )
SLC19A1 p.His27Arg (p.H27R) ( ENST00000311124.9, ENST00000380010.8, ENST00000567670.5, ENST00000650808.1 )
FOLH1 p.Arg536Trp (p.R536W) ( ENST00000256999.7, ENST00000340334.11, ENST00000356696.7, ENST00000533034.1 )
SHMT1 p.Leu474Phe (p.L474F) ( ENST00000316694.8, ENST00000354098.7 )
SLC19A1 p.Ala344Val (p.A344V) ( ENST00000311124.9, ENST00000380010.8, ENST00000485649.3, ENST00000567670.5, ENST00000650808.1 )
SLC19A1 p.His27Arg (p.H27R) ( ENST00000311124.9, ENST00000380010.8, ENST00000567670.5, ENST00000650808.1 ) - Associated Disease
- Acute lymphocytic leukemia
- Source Database
- DisGeNET
- Description
- Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R, TYMS 3´-UTR ins6/del6, MTHFR C677T, MTR A2756G polymorphisms using PCR-RFLP and PCR-amplified fragment length polymorphism techniques.
- Pubmed
- 22838948
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00271441872080303
- Year of publication
- 2012
Drugs