Variant "SIPA1L2:c.3642+443G>T"
Search result: 1 record
Variant information
Gene:
SIPA1L2 
Variant:
SIPA1L2:c.3642+443G>T 
Genomic location:
chr1:232576594(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_020808.4:c.3642+443G>T
dbSNP ID:
rs1547740  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered foot dorsiflexion strength(1)  
Detail：
  • Target disease:
    Charcot-Marie-Tooth Disease Type 1A (DOID_0110148)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered foot dorsiflexion strength 
    Evidence:
    P<1×10(-7) 
    Effect:
    SIPA1L2 is a potential genetic modifier of CMT1A phenotypic expressions and offers a new pathway to therapeutic interventions
    Reference:
    PMID30706531
    Title:
    Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A.
    Species studied:
    Human
    Abstract:
    Genetic modifiers in rare disease have long been suspected to contribute to the considerable variance in disease expression, including Charcot-Marie-Tooth disease type 1A (CMT1A). To address this question, the Inherited Neuropathy Consortium collected a large standardized sample of such rare CMT1A patients over a period of 8years. CMT1A is caused in most patients by a uniformly sized 1.5Mb duplication event involving the gene PMP22.