Variant: rs1392364437

present in Gene: MIR6753;TCIRG1 present in Chromosome: 11 Position on Chromosome: 68043499 Alleles of this Variant: T/C

rs1392364437 in MIR6753;TCIRG1 gene and Osteopetrosis, Autosomal Recessive 1 PMID 18715141 2009 Characterization of a novel Alu-Alu recombination-mediated genomic deletion in the TCIRG1 gene in five osteopetrotic patients.

PMID 11532986 2001 The mutational spectrum of human malignant autosomal recessive osteopetrosis.