Variant: rs1060502088

present in Gene: SMARCA4 present in Chromosome: 19 Position on Chromosome: 11039495 Alleles of this Variant: G/-

rs1060502088 in SMARCA4 gene and Rhabdoid Tumor Predisposition Syndrome 2 PMID 24658002 2014 Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type.

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