Variant "SRGAP1:c.1849C>T(p.Arg617Cys)"
Search result: 1 record
Variant information
Gene:
SRGAP1 
Variant:
SRGAP1:c.1849C>T(p.Arg617Cys) 
Genomic location:
chr12:64502747(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_020762.2:c.1849C>T(p.Arg617Cys)
dbSNP ID:
rs114817817  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Penetrance(1)  
Modifier effect:
Altered incidence(1)  
Detail：
  • 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.