Variant: rs1553766262 

    present in Gene: CASR
    present in Chromosome: 3
    Position on Chromosome: 122257279
    Alleles of this Variant: C/A

rs1553766262 in CASR gene and Dysmorphic features PMID 26855056 2016 Neonatal severe hyperparathyroidism caused by homozygous mutation in CASR: A rare cause of life-threatening hypercalcemia.

PMID 28122587 2017 Diseases associated with calcium-sensing receptor.

PMID 20846291 2010 A homozygous inactivating calcium-sensing receptor mutation, Pro339Thr, is associated with isolated primary hyperparathyroidism: correlation between location of mutations and severity of hypercalcaemia.