Variant: rs758937799 

    present in Gene: TBCE
    present in Chromosome: 1
    Position on Chromosome: 235401545
    Alleles of this Variant: AG/-

rs758937799 in TBCE gene and HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME PMID 12389028 2002 Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.

rs758937799 in TBCE gene and KENNY-CAFFEY SYNDROME, TYPE 1 PMID 12389028 2002 Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.