Annotation Detail
Information
- Associated Genes
- FCER2
- Associated Variants
-
MYD88 p.Leu260Pro (p.L260P)
(
ENST00000417037.8,
ENST00000421516.3,
ENST00000650112.2,
ENST00000650905.2,
ENST00000651800.2,
ENST00000652213.1 )
MYD88 p.Leu260Pro (p.L260P) ( ENST00000417037.8, ENST00000421516.3, ENST00000650112.2, ENST00000650905.2, ENST00000651800.2, ENST00000652213.1 ) - Associated Disease
- Lymphocytosis
- Source Database
- DisGeNET
- Description
- Among WM and IgM-MGUS, MYD88 L265P mutation was associated with some differences in clinical and biological characteristics, although usually minor; wild-type MYD88 cases had smaller M-component (1.77 vs 2.72 g/dl, P=0.022), more lymphocytosis (24 vs 5%, P=0.006), higher lactate dehydrogenase level (371 vs 265 UI/L, P=0.002), atypical immunophenotype (CD23-CD27+ +FMC7+ +), less Immunoglobulin Heavy Chain Variable gene (IGHV) somatic hypermutation (57 vs 97%, P=0.012) and less IGHV3-23 gene selection (9 vs 27%, P=0.014).
- Pubmed
- 23446312
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2013
Drugs