Variant "GRIN2B:c.2664C>T(p.Thr888Thr)"
Search result: 1 record
Variant information
Gene:
GRIN2B 
Variant:
GRIN2B:c.2664C>T(p.Thr888Thr) 
Genomic location:
chr12:13717508(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_000834.3:c.2664C>T(p.Thr888Thr)
dbSNP ID:
rs1806201  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Target disease:
    Huntington's Disease (DOID_12858)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    P=0.028 
    Effect:
    These findings further implicate the N-methyl D-aspartate receptor subtype genes as loci containing variation associated with AO in HD.
    Reference:
    PMID21989477
    Title:
    NMDA receptor gene variations as modifiers in Huntington disease: a replication study.
    Species studied:
    Human
    Abstract:
    Several candidate modifier genes which, in addition to the pathogenic CAG repeat expansion, influence the age at onset (AO) in Huntington disease (HD) have already been described. The aim of this study was to replicate association of variations in the N-methyl D-aspartate receptor subtype genes GRIN2A and GRIN2B in the REGISTRY cohort from the European Huntington Disease Network (EHDN). The analyses did replicate the association reported between the GRIN2A rs2650427 variation and AO in the entire cohort. Yet, when subjects were stratified by AO subtypes, we found nominally significant evidence for an association of the GRIN2A rs1969060 variation and the GRIN2B rs1806201 variation. These findings further implicate the N-methyl D-aspartate receptor subtype genes as loci containing variation associated with AO in HD.