Variant "GOLGB1:c.3650A>G(p.Tyr1212Cys)"
Search result: 1 record
Variant information
Gene:
GOLGB1 
Variant:
GOLGB1:c.3650A>G(p.Tyr1212Cys) 
Genomic location:
chr3:121415720(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_001256486.1:c.3650A>G(p.Tyr1217Cys)
protein_coding NM_004487.4:c.3635A>G(p.Tyr1212Cys)
protein_coding NM_001256487.1:c.3533A>G(p.Tyr1178Cys)
protein_coding NM_001256488.1:c.3410A>G(p.Tyr1137Cys)
dbSNP ID:
rs3732410  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Target disease:
    Sickle Cell Anemia (DOID_10923)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    P=9.3×10(-5) 
    Effect:
    One mutation in GOLGB1 (Y1212C) and another mutation in ENPP1 (K173Q) were confirmed as having significant associations with a decreased risk for stroke.
    Reference:
    PMID23422753
    Title:
    Genetic mapping and exome sequencing identify 2 mutations associated with stroke protection in pediatric patients with sickle cell anemia.
    Species studied:
    Human
    Abstract:
    Stroke is a devastating complication of sickle cell anemia (SCA), occurring in 11% of patients before age 20 years. Previous studies of sibling pairs have demonstrated a genetic component to the development of cerebrovascular disease in SCA, but few candidate genetic modifiers have been validated as having a substantial effect on stroke risk. We performed an unbiased whole-genome search for genetic modifiers of stroke risk in SCA. Genome-wide association studies were performed using genotype data from single-nucleotide polymorphism arrays, whereas a pooled DNA approach was used to perform whole-exome sequencing. In combination, 22 nonsynonymous variants were identified and represent key candidates for further in-depth study. To validate the association of these mutations with the risk for stroke, the 22 candidate variants were genotyped in an independent cohort of control patients (n = 231) and patients with stroke (n = 57) with SCA. One mutation in GOLGB1 (Y1212C) and another mutation in ENPP1 (K173Q) were confirmed as having significant associations with a decreased risk for stroke. These mutations were discovered and validated by an unbiased whole-genome approach, and future studies will focus on how these functional mutations may lead to protection from stroke in the context of SCA.