Name
CACNA1C
Location
12 : 2079952 - 2802108
ID Type
Gene symbol
max. CDS
6630
MRHC
0.1863
Comment
Entrez
775
CCDS
CCDS44787.1
OMIM
114205
GeneCards
CACNA1C
MGI ID
MGI:103013
Source: CCDS.2011-09-07

 Scores

pLI
0.999998

  Experts

  Expert Gene Panel Abstract Level of expertise
  nick     nick cardiomyopathy I'm an expert for these genes

 Annotations

  User Chrom Pos Genotype Gene Comment OMIM-ID Actions
  GeneTalk chr12 2614110 A/G CACNA1C Timothy syndrome 114205 Show
  GeneTalk chr12 2614098 A/G CACNA1C Timothy syndrome 114205 Show
  GeneTalk chr12 2659186 A/G CACNA1C Brugada syndrome (shorter-than-normal... 114205 Show
  GeneTalk chr12 2224456 C/T CACNA1C Brugada syndrome (shorter-than-normal... 114205 Show
  GeneTalk chr12 2716283 A/G CACNA1C Brugada syndrome (shorter-than-normal... 114205 Show
  GeneTalk chr12 2794967 A/G CACNA1C Brugada syndrome (shorter-than-normal... 114205 Show
  GeneTalk chr12 2797868 A/G CACNA1C Brugada syndrome (shorter-than-normal... 114205 Show
  GeneTalk chr12 2800336 A/G CACNA1C Brugada syndrome (shorter-than-normal... 114205 Show
  GeneTalk chr12 2789681 A/G Brugada syndrome (shorter-than-normal... Show
  GeneTalk chr12 2091257 T/C dbSNP annotation Show
  GeneTalk chr12 2097716 T/C dbSNP annotation Show
  GeneTalk chr12 2115247 T/C dbSNP annotation Show
  GeneTalk chr12 2128982 T/G dbSNP annotation Show
  GeneTalk chr12 2184466 G/C dbSNP annotation Show
  GeneTalk chr12 2184560 T/C dbSNP annotation Show
  GeneTalk chr12 2222732 T/G dbSNP annotation Show
  GeneTalk chr12 2224456 T/C dbSNP annotation Show
  GeneTalk chr12 2224511 T/C dbSNP annotation Show
  GeneTalk chr12 2229476 G/A dbSNP annotation Show
  GeneTalk chr12 2316195 T/A dbSNP annotation Show
  GeneTalk chr12 2345295 G/A dbSNP annotation Show
  GeneTalk chr12 2349584 G/C dbSNP annotation Show
  GeneTalk chr12 2402246 G/A dbSNP annotation Show
  GeneTalk chr12 2419896 T/A dbSNP annotation Show
  GeneTalk chr12 2420526 G/A dbSNP annotation Show
  GeneTalk chr12 2423857 G/A dbSNP annotation Show
  GeneTalk chr12 2435543 T/G dbSNP annotation Show
  GeneTalk chr12 2447414 G/C dbSNP annotation Show
  GeneTalk chr12 2481936 T/C dbSNP annotation Show
  GeneTalk chr12 2558186 G/A dbSNP annotation Show
  GeneTalk chr12 2614098 G/A dbSNP annotation Show
  GeneTalk chr12 2614110 G/A dbSNP annotation Show
  GeneTalk chr12 2626878 T/A dbSNP annotation Show
  GeneTalk chr12 2659186 G/A dbSNP annotation Show
  GeneTalk chr12 2666348 G/A dbSNP annotation Show
  GeneTalk chr12 2694638 T/C dbSNP annotation Show
  GeneTalk chr12 2716283 G/A dbSNP annotation Show
  GeneTalk chr12 2721137 T/C dbSNP annotation Show
  GeneTalk chr12 2729632 G/A dbSNP annotation Show
  GeneTalk chr12 2757769 T/C dbSNP annotation Show
  GeneTalk chr12 2774833 T/C dbSNP annotation Show
  GeneTalk chr12 2788879 G/A dbSNP annotation Show
  GeneTalk chr12 2791130 T/C dbSNP annotation Show
  GeneTalk chr12 2791132 G/A dbSNP annotation Show
  GeneTalk chr12 2794967 G/A dbSNP annotation Show
  GeneTalk chr12 2795023 T/C dbSNP annotation Show
  GeneTalk chr12 2797859 G/A dbSNP annotation Show
  GeneTalk chr12 2797868 G/A dbSNP annotation Show
  GeneTalk chr12 2800255 T/G dbSNP annotation Show
  GeneTalk chr12 2800336 G/A dbSNP annotation Show
  ClinVar     ClinVar chr12 2224511 C/T CACNA1C - 115000 Show
  ClinVar     ClinVar chr12 2229476 G/A CACNA1C - 115000 Show
  ClinVar     ClinVar chr12 2795023 C/T CACNA1C - 115000 Show
  ClinVar     ClinVar chr12 2797859 G/A CACNA1C - 115000 Show
  ClinVar     ClinVar chr12 2800255 G/T CACNA1C - 115000 Show
  ClinVar     ClinVar chr12 2794967 G/A CACNA1C - 114205 Show
  ClinVar     ClinVar chr12 2797868 G/A CACNA1C - 114205 Show
  ClinVar     ClinVar chr12 2614098 G/A CACNA1C - 114205 Show
  ClinVar     ClinVar chr12 2614110 G/A CACNA1C - 114205 Show
  ClinVar     ClinVar chr12 2102457 G/A CACNA1C - 609843 Show
  ClinVar     ClinVar chr12 2566791 G/A CACNA1C - 114205 Show
  ClinVar     ClinVar chr12 2602544 C/T CACNA1C - 114205 Show
  ClinVar     ClinVar chr12 2717707 G/A CACNA1C - 114205 Show
  ClinVar     ClinVar chr12 2742814 G/A CACNA1C - 114205 Show
  ClinVar     ClinVar chr12 2474181 A/T CACNA1C - 211980 Show
  ClinVar     ClinVar chr12 2487507 G/T CACNA1C - 211980 Show
  ClinVar     ClinVar chr12 2545669 G/C CACNA1C - 211980 Show
  ClinVar     ClinVar chr12 2565244 C/T CACNA1C - 211980 Show
  ClinVar     ClinVar chr12 2583058 C/T CACNA1C - 211980 Show
  ClinVar     ClinVar chr12 2675317 G/A CACNA1C - 211980 Show
  ClinVar     ClinVar chr12 2613692 G/A CACNA1C - 603829 Show
  ClinVar     ClinVar chr12 2702427 G/C CACNA1C - 114205 Show
  ClinVar     ClinVar chr12 2788668 C/G CACNA1C - 114205 Show
  ClinVar     ClinVar chr12 2788962 G/C CACNA1C - 114205 Show
  ClinVar     ClinVar chr12 2794927 C/T CACNA1C - 114205 Show
  ClinVar     ClinVar chr12 2224456 C/T CACNA1C Brugada syndrome is characterized by ... 114205 Show
  ClinVar     ClinVar chr12 2659186 G/A CACNA1C Brugada syndrome is characterized by ... 114205 Show
  ClinVar     ClinVar chr12 2716283 G/A CACNA1C Brugada syndrome is characterized by ... 114205 Show
  ClinVar     ClinVar chr12 2797868 G/A CACNA1C Brugada syndrome is characterized by ... 114205 Show
  ClinVar     ClinVar chr12 2800336 G/A CACNA1C Brugada syndrome is characterized by ... 114205 Show
  ClinVar     ClinVar chr12 2702389 TGAG/T CACNA1C - 114205 Show
  ClinVar     ClinVar chr12 2778159 C/T CACNA1C - 114205 Show
  ClinVar     ClinVar chr12 2797746 G/A CACNA1C Short QT syndrome is a condition that... 114205 Show
  ClinVar     ClinVar chr12 2614110 G/A CACNA1C Timothy syndrome is a multisystem dis... 601005 Show
  ClinVar     ClinVar chr12 2614098 G/A CACNA1C Timothy syndrome is a multisystem dis... 601005 Show
  ClinVar     ClinVar chr12 2659186 G/A CACNA1C Brugada syndrome is characterized by ... 611875 Show
  ClinVar     ClinVar chr12 2224456 C/T CACNA1C Brugada syndrome is characterized by ... 611875 Show
  ClinVar     ClinVar chr12 2794967 G/A CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2224449 G/A CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2622013 G/C CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2622119 C/T CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2675633 C/T CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2224511 C/T CACNA1C The term `not specified` was created ... 114205 Show
  ClinVar     ClinVar chr12 2693678 T/C CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2693724 G/A CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2694598 C/A CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2694638 C/T CACNA1C The term `not specified` was created ... 114205 Show
  ClinVar     ClinVar chr12 2694651 C/T CACNA1C The term `not specified` was created ... 114205 Show
  ClinVar     ClinVar chr12 2714958 G/C CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2717695 C/T CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2719790 C/T CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2721131 C/A CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2721137 C/T CACNA1C The term `not specified` was created ... 114205 Show
  ClinVar     ClinVar chr12 2760829 C/T CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2774067 C/T CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2774833 T/C CACNA1C The term `not specified` was created ... 114205 Show
  ClinVar     ClinVar chr12 2778116 C/T CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2788615 C/T CACNA1C The term `not specified` was created ... 114205 Show
  ClinVar     ClinVar chr12 2788657 C/T CACNA1C The term `not specified` was created ... 114205 Show
  ClinVar     ClinVar chr12 2788668 C/G CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2558186 G/A CACNA1C The term `not specified` was created ... 114205 Show
  ClinVar     ClinVar chr12 2788879 G/A CACNA1C The term `not specified` was created ... 114205 Show
  ClinVar     ClinVar chr12 2791722 C/T CACNA1C The term `not specified` was created ... 114205 Show
  ClinVar     ClinVar chr12 2794932 A/G CACNA1C The term `not specified` was created ... 114205 Show
  ClinVar     ClinVar chr12 2794977 G/A CACNA1C The term `not specified` was created ... 114205 Show
  ClinVar     ClinVar chr12 2794993 C/T CACNA1C The term `not specified` was created ... 114205 Show
  ClinVar     ClinVar chr12 2795019 C/T CACNA1C The term `not specified` was created ... 114205 Show
  ClinVar     ClinVar chr12 2795023 C/T CACNA1C The term `not specified` was created ... 114205 Show
  ClinVar     ClinVar chr12 2797746 G/A CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2558298 G/A CACNA1C The term `not specified` was created ... 114205 Show
  ClinVar     ClinVar chr12 2558300 T/C CACNA1C The term `not specified` was created ... 114205 Show
  ClinVar     ClinVar chr12 2224411 G/A CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2595283 C/T CACNA1C The term `not specified` was created ... 114205 Show
  ClinVar     ClinVar chr12 2558123 T/G CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2558186 G/A CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2558298 G/A CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2558300 T/C CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2566733 G/A CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2595358 C/T CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2602405 C/T CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2613716 C/T CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2676859 C/T CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2693803 C/A CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2694638 C/T CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2695079 C/T CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2702485 G/A CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2705088 C/T CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2705179 G/A CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2715841 T/C CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2721137 C/T CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2757661 C/T CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2760898 C/T CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2760948 A/G CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2764342 C/T CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2775832 T/C CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2778090 C/T CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2778134 C/T CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2786253 G/A CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2787006 C/T CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2787051 G/A CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2788615 C/T CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2788732 C/A CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2788810 C/T CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2788849 C/T CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2788878 C/T CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2788879 G/A CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2788942 G/A CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2224728 G/A CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2791800 T/C CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2794993 C/T CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2229494 A/G CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2229545 G/A CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2614070 G/T CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2621972 C/T CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2714835 C/T CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2717693 A/G CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2719708 G/A CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2763070 G/A CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2774080 C/T CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2788624 G/A CACNA1C The term `not provided` is registered... 114205 Show
  ClinVar     ClinVar chr12 2788810 C/T CACNA1C The term `not specified` was created ... 114205 Show
  ClinVar     ClinVar chr12 2245636 -/- CACNA1C - 114205 Show
  ClinVar     ClinVar chr12 2245636 -/- CACNA1C - 114205 Show
  ClinVar     ClinVar chr12 2245636 -/- CACNA1C - 114205 Show
  ClinVar     ClinVar chr12 2245636 -/- CACNA1C - 114205 Show
  Chrom Start End Actions
  chr12 2162729 2162777 Show
  chr12 2224390 2224711 Show
  chr12 2229491 2229596 Show
  chr12 2558142 2558281 Show
  chr12 2566733 2566872 Show
  chr12 2595270 2595428 Show
  chr12 2602356 2602552 Show
  chr12 2613602 2613705 Show
  chr12 2621978 2622150 Show
  chr12 2659109 2659199 Show
  chr12 2666117 2666143 Show
  chr12 2675588 2675748 Show
  chr12 2676735 2676960 Show
  chr12 2690756 2690963 Show
  chr12 2691988 2692108 Show
  chr12 2693669 2693783 Show
  chr12 2694542 2694662 Show
  chr12 2695001 2695070 Show
  chr12 2702379 2702511 Show
  chr12 2705040 2705169 Show
  chr12 2706603 2706662 Show
  chr12 2711020 2711126 Show
  chr12 2714247 2714334 Show
  chr12 2714845 2714952 Show
  chr12 2715777 2715829 Show
  chr12 2716150 2716296 Show
  chr12 2717677 2717878 Show
  chr12 2719707 2719865 Show
  chr12 2721069 2721179 Show
  chr12 2743463 2743546 Show
  chr12 2757641 2757673 Show
  chr12 2760806 2760934 Show
  chr12 2763001 2763066 Show
  chr12 2764313 2764404 Show
  chr12 2773991 2774156 Show
  chr12 2774747 2774874 Show
  chr12 2775852 2775948 Show
  chr12 2778099 2778201 Show
  chr12 2783707 2783808 Show
  chr12 2786260 2786387 Show
  chr12 2786899 2787033 Show
  chr12 2788610 2788962 Show
  chr12 2791716 2791844 Show
  chr12 2794902 2795008 Show
  chr12 2795332 2795435 Show
  chr12 2797613 2797945 Show
  chr12 2800066 2800365 Show
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