Variant: rs281875226 

    present in Gene: SMARCA4
    present in Chromosome: 19
    Position on Chromosome: 11019661
    Alleles of this Variant: C/T

rs281875226 in SMARCA4 gene and COFFIN-SIRIS SYNDROME 4 PMID 22426308 2012 Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.

rs281875226 in SMARCA4 gene and Multiple congenital anomalies PMID 24658001 2014 Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4.

PMID 20137775 2010 Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome.

PMID 23815551 2014 Coffin-Siris syndrome is a SWI/SNF complex disorder.

PMID 22426308 2012 Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.

PMID 23637025 2013 Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature.

PMID 28608987 2017 SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type.

PMID 23775540 2013 Familial rhabdoid tumour 'avant la lettre'--from pathology review to exome sequencing and back again.

PMID 23929686 2013 Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.