Gene "SRGAP1"
Found 2 records
Gene information
Gene symbol:
SRGAP1
See related:
Ensembl: ENSG00000196935, Gene ID: 57522
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
2 
Disorder:
1 
Vriant:
2 
Reference:
1 
Effect type:
Penetrance(2)  
Modifier effect:
Altered incidence(2)  
Details：
  • Variant 1:
    SRGAP1:c.447A>C(p.Gln149His)
    Gene:
    SRGAP1
    Genomic location:
    chr12:64410750
    dbSNP ID:
    rs781626187
    Target disease:
    Papillary Thyroid Carcinoma(DOID_3969)
    Effect type:
    Penetrance 
    Modifier effect:
    Altered incidence 
    Evidence:
    Pedigree analysis 
    Effect:
    SRGAP1 is likely a low-penetrant gene, possibly of a modifier type.
    Reference:
    PMID23539728
    Title:
    SRGAP1 is a candidate gene for papillary thyroid carcinoma susceptibility.
    Species studied:
    Human
    Abstract:
    Papillary thyroid carcinoma (PTC) shows high heritability, yet efforts to find predisposing genes have been largely negative.
  • Variant 2:
    SRGAP1:c.1849C>T(p.Arg617Cys)
    Gene:
    SRGAP1
    Genomic location:
    chr12:64502747
    dbSNP ID:
    rs114817817
    Target disease:
    Papillary Thyroid Carcinoma(DOID_3969)
    Effect type:
    Penetrance 
    Modifier effect:
    Altered incidence 
    Evidence:
    Pedigree analysis 
    Effect:
    SRGAP1 is likely a low-penetrant gene, possibly of a modifier type.
    Reference:
    PMID23539728
    Title:
    SRGAP1 is a candidate gene for papillary thyroid carcinoma susceptibility.
    Species studied:
    Human
    Abstract:
    Papillary thyroid carcinoma (PTC) shows high heritability, yet efforts to find predisposing genes have been largely negative.