Variant "GBA:c.1448T>G(p.Leu483Arg)"
Search result: 1 record
Variant information
Gene:
GBA 
Variant:
GBA:c.1448T>G(p.Leu483Arg) 
Genomic location:
chr1:155205043(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_000157.3:c.1448T>G(p.Leu483Arg)
protein_coding NM_001005741.2:c.1448T>G(p.Leu483Arg)
protein_coding NM_001005742.2:c.1448T>G(p.Leu483Arg)
protein_coding NM_001171812.1:c.1301T>G(p.Leu434Arg)
protein_coding NM_001171811.1:c.1187T>G(p.Leu396Arg)
dbSNP ID:
rs421016  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered severity(1)  
Detail：
  • Target disease:
    Gaucher's Disease (DOID_1926)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    Assessment of genotype–phenotype associations 
    Effect:
    Modify disease severity
    Reference:
    PMID26992326
    Title:
    Varied autopsy findings in five treated patients with Gaucher disease and parkinsonism include the absence of Gaucher cells.
    Species studied:
    Human
    Abstract:
    Enzyme replacement therapy is standard of care for patients with Gaucher disease, as it significantly improves skeletal, visceral, and hematological symptoms. Few pathological studies have documented the extent of pathological findings in treated patients. Autopsy findings in five treated patients, who ultimately developed parkinsonism, ranged from the complete absence of Gaucher pathology to extensive involvement of multiple tissues, without correlation to age, genotype, spleen status, or dose/duration of therapy. Additional autopsies may elucidate modifiers and biomarkers contributing to disease burden and response to therapy.