Variant "HBB:c.44T>G(p.Leu15Arg)"
Search result: 1 record
Variant information
Gene:
HBB 
Variant:
HBB:c.44T>G(p.Leu15Arg) 
Genomic location:
chr11:5248208(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_000518.4:c.44T>G(p.Leu15Arg)
dbSNP ID:
rs33935445  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Target disease:
    Beta Thalassemia (DOID_12241)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    Pedigree analysis 
    Effect:
    Mutation identified in an Argentinean Family Associated with Secondary Genetic Modifiers of β-Thalassemia
    Reference:
    PMID25268796
    Title:
    A new β(0) frameshift mutation, HBB: c.44delT (p.Leu14ArgfsX5), identified in an Argentinean family associated with secondary genetic modifiers of β-thalassemia.
    Species studied:
    Human
    Abstract:
    β-Thalassemia intermedia (β-TI) patients present with a wide spectrum of phenotypes depending on the presence of primary, secondary, and tertiary genetic modifiers which modulate, by different mechanisms, the degree of imbalance between α and β chains. Here we describe a new β(0) frameshift mutation, HBB: c.44delT (p.Leu14ArgfsX5), identified in four members of a family, associated with secondary genetic modifiers in three of them. The different genotype present in this family was suspected after hematological analysis and thorough observation of blood smears highlighting their importance in the identification of β-TI patients among members of the same family.