Variant "CTSB:c.76C>G(p.Leu26Val)"
Search result: 1 record
Variant information
Gene:
CTSB 
Variant:
CTSB:c.76C>G(p.Leu26Val) 
Genomic location:
chr8:11710888(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_001908.4:c.76C>G(p.Leu26Val)
protein_coding NM_147780.3:c.76C>G(p.Leu26Val)
protein_coding NM_147781.3:c.76C>G(p.Leu26Val)
protein_coding NM_147782.3:c.76C>G(p.Leu26Val)
protein_coding NM_147783.3:c.76C>G(p.Leu26Val)
protein_coding NM_001317237.1:c.-178C>G
show all
dbSNP ID:
rs12338  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Penetrance(1)  
Modifier effect:
Altered incidence(1)  
Detail：
  • Target disease:
    Tropical Pancreatitis (Orphanet_103918)
    Effect type:
    Penetrance 
    Modifier effect:
    Altered incidence 
    Evidence:
    OR=2.15, 95% CI: 1.60-2.90, P=0.009 
    Effect:
    These variants may be critical as a trigger for cationic trypsinogen activation.
    Reference:
    PMID16492714
    Title:
    Association of cathepsin B gene polymorphisms with tropical calcific pancreatitis.
    Species studied:
    Human
    Abstract:
    Tropical calcific pancreatitis (TCP) is a type of chronic pancreatitis unique to countries in the tropics. Mutations in pancreatic secretory trypsin inhibitor (SPINK1) rather than cationic trypsinogen (PRSS1) explain the disease in only 50% of TCP patients. As cathepsin B (CTSB) is known to activate cationic trypsinogen, we attempted to understand the role of CTSB mutations in TCP. Evidence of epistatic interaction was investigated with the previously associated N34S SPINK1 allele, a variant considered to be a modifier rather than a true susceptibility allele.