Variant: rs1553676901 

    present in Gene: CACNA1D
    present in Chromosome: 3
    Position on Chromosome: 53776046
    Alleles of this Variant: G/C

rs1553676901 in CACNA1D gene and Movement Disorders PMID 25620733 2015 CACNA1D de novo mutations in autism spectrum disorders activate Cav1.3 L-type calcium channels.

PMID 28472507 2017 A Case Report of Hypoglycemia and Hypogammaglobulinemia: DAVID Syndrome in a Patient With a Novel NFKB2 Mutation.

PMID 21131953 2011 Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness.

PMID 25363760 2014 Synaptic, transcriptional and chromatin genes disrupted in autism.

PMID 12700358 2003 Functional role of L-type Cav1.3 Ca2+ channels in cardiac pacemaker activity.

PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

PMID 23913001 2013 Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism.

PMID 23913004 2013 Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension.

PMID 10929716 2000 Congenital deafness and sinoatrial node dysfunction in mice lacking class D L-type Ca2+ channels.