AutismKB

Evidence Detail for CACNA1C


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Basic Information Top
Gene Symbol:CACNA1C ( CACH2,CACN2,CACNL1A1,CCHL1A1,CaV1.2,MGC120730,TS )
Gene Full Name: calcium channel, voltage-dependent, L type, alpha 1C subunit
Band: 12p13.3
Quick LinksEntrez ID:775; OMIM: 114205; Uniprot ID:CAC1C_HUMAN; ENSEMBL ID: ENSG00000151067
Sequences Top
>CACNA1C|775|nucleotide
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>CACNA1C|775|protein
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Evidence Statistic Top

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Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) Yes 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 2 (0)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
InheritanceAD
OMIMTimothy syndrome (601005)
DescriptionTimothy syndrome (long QT syndrome with syndactyly). Among 5 children with Timothy syndrome, 3 had autism, one had ASD, and one had severe language delay
Reference(s)15454078; 20301577;
LevelLevel 4: The disorder is a generally acknowledged ASD related disorder.
Low Scale Association Studies (by Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0004127 12 12p13.33 gain 1 1 CNVs Only Present In Patients; Levy, 2011
Linkage Studies Top

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  (e.g. CDH8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
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