present in Gene: GCM2
present in Chromosome: 6
Position on Chromosome: 10877343
Alleles of this Variant: C/A;T
rs104893959 in
GCM2 gene and
Hypoparathyroidism familial isolated
PMID 20190276 2010 Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.
PMID 15863676 2005 Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism.
PMID 20463099 2010 A missense glial cells missing homolog B (GCMB) mutation, Asn502His, causes autosomal dominant hypoparathyroidism.
PMID 15728199 2005 GCMB mutation in familial isolated hypoparathyroidism with residual secretion of parathyroid hormone.
PMID 23155703 2012 A novel mutation in the GCM2 gene causing severe congenital isolated hypoparathyroidism.