Full data view for gene CACNA1A

Information The variants shown are described using the transcript reference sequence.

1085 entries on 11 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. 1 c.-77A>C - r.(?) p.(=) - Unknown - benign g.13617115T>G g.13506301T>G - - CACNA1A_000278 - - - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Elles Boon
-/. 1 c.-69C>T - r.(?) p.(=) - Unknown - benign g.13617107G>A g.13506293G>A - - CACNA1A_000277 - - - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Elles Boon
-/. 1 c.-55_-53dup - r.(?) p.(=) - Unknown - benign g.13617112_13617114dup g.13506298_13506300dup - - CACNA1A_000001 - - - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Elles Boon
-?/. 1 c.-55_-53dup - r.(?) p.(=) - Unknown - likely benign g.13617112_13617114dup g.13506298_13506300dup -54_-53insGGC - CACNA1A_000001 - PubMed: Battistini 1999 - - Germline - 0.04 in 150 - - - DNA DGGE, SEQ - - migraine - PubMed: Battistini 1999 - - - - - - - - no treatment known 1 LOVD
+/. 33 c.? - r.? p.? - Unknown - pathogenic g.? - 5074delT (Pro1692LeufsX) - CACNA1A_000000 - - - - Germline - - - - - DNA SEQ - - EA2 - - - - - (Germany) - - - - - 1 Birgit Neitzel
-/. 46 c.? - r.? p.? - Unknown - benign g.? - c.6663T>C (=) - CACNA1A_000000 - - - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Elles Boon
-/. 47 c.? - r.? p.? - Unknown - benign g.? - 6840G>A (Pro2280Pro) - CACNA1A_000000 - - - - Germline - - - - - DNA SEQ - - ? - - - - - (Germany) - - - - - 3 Birgit Neitzel
?/? 21 c.? - r.(?) p.(=) - Unknown - VUS g.13396004A>G g.13285190A>G Cys1191Cys - CACNA1A_000098 Variant Error [EREF/ESYNTAX]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. - - - Germline - - - - - DNA SEQ - - ? - - - - - (Germany) - - - - - 1 Birgit Neitzel
+/. 38 c? - r.? p.? - Unknown - pathogenic g.? - 5623delG (Leu1876fsX) - CACNA1A_000000 - - - - Germline - - - - - DNA SEQ - - ? - - - - - (Germany) - - - - - 1 Birgit Neitzel
?/. - c.40G>A - r.(?) p.(Gly14Arg) - Unknown - VUS g.13616999C>T g.13506185C>T - - CACNA1A_000364 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.112_127dup - r.(?) p.(Gly43Alafs*38) - Unknown - likely pathogenic g.13616913_13616928dup - CACNA1A(NM_001127221.1):c.127_128insCAGGGCGGGCAGCCCG (p.(Gly43Alafs*38)) - CACNA1A_000463 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.127G>A - r.(?) p.(Gly43Arg) - Unknown - likely benign g.13616912C>T g.13506098C>T CACNA1A(NM_000068.3):c.127G>A (p.(Gly43Arg)) - CACNA1A_000363 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.153A>G - r.(?) p.(Ser51=) - Unknown - likely benign g.13616886T>C g.13506072T>C CACNA1A(NM_023035.3):c.153A>G (p.S51=) - CACNA1A_000362 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.260T>A - r.(?) p.(Val87Glu) - Unknown ACMG VUS g.13616779A>T - - - CACNA1A_000408 ACMG: PM2. class 3 - - - Germline ? - - - - DNA SEQ-NG-I - - FHM1 172661 - - F ? Turkey - - - - - 1 Andreas Laner
+?/. - c.293+3A>C - r.spl? p.? - Unknown - likely pathogenic g.13616743T>G - CACNA1A(NM_001127221.1):c.293+3A>C (p.?) - CACNA1A_000491 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1i c.293+53G>A - r.(?) p.(=) - Unknown - benign g.13616693C>T g.13505879C>T - - CACNA1A_000276 - - - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Elles Boon
-/. 1i c.293+53G>A - r.(?) p.(=) - Unknown - benign g.13616693C>T g.13505879C>T - - CACNA1A_000276 - - - rs16003 Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Elles Boon
-/. 1i c.293+53G>A - r.(?) p.(=) - Unknown - benign g.13616693C>T g.13505879C>T - - CACNA1A_000276 - - - - Germline - - - - - DNA SEQ - - ? - - - - - (Germany) - - - - - 1 Birgit Neitzel
-/. - c.293+19238_293+19239del - r.(=) p.(=) - Unknown - benign g.13597512_13597513del g.13486698_13486699del CACNA1A(NM_023035.3):c.293+19238_293+19239delGA - CACNA1A_000275 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.301G>C - r.(?) p.(Glu101Gln) - Unknown - pathogenic g.13566019C>G g.13455205C>G - - CACNA1A_000274 - PubMed: Epi4K consortium 2016, Journal: Epi4K consortium 2016 - - De novo - - - - - DNA SEQ, SEQ-NG - - EE - PubMed: Epi4K consortium 2016, Journal: Epi4K consortium 2016 - M - - - - - - - 1 Johan den Dunnen
?/. - c.305A>T - r.(?) p.(Tyr102Phe) - Unknown - VUS g.13566015T>A - CACNA1A(NM_001127221.2):c.305A>T (p.Y102F) - CACNA1A_000573 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.399+99A>G - r.(=) p.(=) - Unknown - likely benign g.13565822T>C g.13455008T>C CACNA1A(NM_023035.3):c.399+99A>G - CACNA1A_000273 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 2i c.400-28C>T - r.(?) p.(=) - Unknown - benign g.13563857G>A g.13453043G>A - - CACNA1A_000272 - - - - Germline - - - - - DNA SEQ - - ? - - - - - (Germany) - - - - - 3 Birgit Neitzel
-/. 3 c.400-28C>T - r.(?) p.(=) - Unknown - benign g.13563857G>A g.13453043G>A - - CACNA1A_000272 - - - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Elles Boon
-/. - c.400-28C>T - r.(=) p.(=) - Unknown - benign g.13563857G>A g.13453043G>A CACNA1A(NM_023035.3):c.400-28C>T - CACNA1A_000272 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.462C>T - r.(?) p.(Ala154=) - Unknown - benign g.13563767G>A g.13452953G>A CACNA1A(NM_000068.3):c.462C>T (p.(Ala154=)), CACNA1A(NM_023035.2):c.462C>T (p.A154=) - CACNA1A_000271 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.462C>T - r.(?) p.(Ala154=) - Unknown - likely benign g.13563767G>A - CACNA1A(NM_000068.3):c.462C>T (p.(Ala154=)), CACNA1A(NM_023035.2):c.462C>T (p.A154=) - CACNA1A_000271 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.539+17A>G - r.(=) p.(=) - Unknown - likely benign g.13563673T>C - CACNA1A(NM_023035.3):c.539+17A>G - CACNA1A_000495 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.539+152C>A - r.(=) p.(=) - Unknown - likely benign g.13563538G>T g.13452724G>T CACNA1A(NM_023035.3):c.539+152C>A - CACNA1A_000270 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.540-23497_540-23496insG - r.(=) p.(=) - Unknown - likely benign g.13506089_13506090insC - CACNA1A(NM_001127222.2):c.540-23497_540-23496insG - CACNA1A_000570 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.561G>A - r.(?) p.(Thr187=) - Unknown - likely benign g.13482572C>T g.13371758C>T CACNA1A(NM_023035.2):c.561G>A (p.T187=) - CACNA1A_000269 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.566T>C - r.(?) p.(Phe189Ser) - Unknown - VUS g.13482567A>G g.13371753A>G - - CACNA1A_000268 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 4 c.575G>A - r.(?) p.Arg192Gln - Unknown - benign g.13482558C>T g.13371744C>T - - CACNA1A_000002 - - - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Elles Boon
+?/+? 4 c.575G>A - r.(?) p.(Arg192Gln) - Unknown - likely pathogenic g.13482558C>T g.13371744C>T - - CACNA1A_000002 tested expression in vitro/in vivo PubMed: 15003170 - - animal model - - - - - DNA SEQ - - migraine - - - - - - - - - - - 1 Paola Carrera
+?/+? 4 c.575G>A - r.(?) p.(Arg192Gln) - Unknown - likely pathogenic g.13482558C>T g.13371744C>T - - CACNA1A_000002 tested expression in vitro/in vivo {PMID16111830:Kaja 2005} - - animal model - - - - - DNA SEQ - - migraine - - - - - - - - - - - 1 Paola Carrera
+?/+? 4 c.575G>A - r.(?) p.(Arg192Gln) - Unknown - NA g.13482558C>T g.13371744C>T - - CACNA1A_000002 tested expression in vitro/in vivo PubMed: 19285472 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 4 c.575G>A - r.(?) p.(Arg192Gln) - Unknown - NA g.13482558C>T g.13371744C>T - - CACNA1A_000002 tested expression in vitro/in vivo {PMID19847904:Eikermann-Haerter 2009} - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 4 c.575G>A - r.(?) p.(Arg192Gln) - Unknown - NA g.13482558C>T g.13371744C>T - - CACNA1A_000002 tested expression in vitro/in vivo {PMID12235360:Tottene 2002} - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 4 c.575G>A - r.(?) p.(Arg192Gln) - Unknown - NA g.13482558C>T g.13371744C>T - - CACNA1A_000002 tested expression in vitro/in vivo {PMID12527722:Mellit 2003} - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 4 c.575G>A - r.(?) p.(Arg192Gln) - Unknown - NA g.13482558C>T g.13371744C>T - - CACNA1A_000002 tested expression in vitro/in vivo {PMID15294146:Cao 2004} - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 4 c.575G>A - r.(?) p.(Arg192Gln) - Unknown - NA g.13482558C>T g.13371744C>T - - CACNA1A_000002 tested expression in vitro/in vivo {PMID15699344:Cao 2005} - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.575G>A - r.(?) p.(Arg192Gln) I S4 Unknown - likely pathogenic g.13482558C>T g.13371744C>T - - CACNA1A_000002 not in 100 controls; tested expression in vitro/in vivo PubMed: Ophoff 1996 - - Germline - - SfcI - - DNA PCR, SEQ - - migraine - PubMed: Ophoff 1996 - M - Italy - - - - no treatment known 1 LOVD
+?/. 4 c.575G>A - r.(?) p.(Arg192Gln) I S4 Unknown - likely pathogenic g.13482558C>T g.13371744C>T - - CACNA1A_000002 not in 100 controls; tested expression in vitro/in vivo PubMed: Ophoff 1996 - - Germline - - SfcI - - DNA PCR, SEQ - - migraine - PubMed: Ophoff 1996 - F - Italy - - - - no treatment known 1 LOVD
+?/. 4 c.575G>A - r.(?) p.(Arg192Gln) I S4 Unknown - likely pathogenic g.13482558C>T g.13371744C>T - - CACNA1A_000002 not in 100 controls; tested expression in vitro/in vivo PubMed: Ophoff 1996 - - Germline - - SfcI - - DNA PCR, SEQ - - migraine - PubMed: Ophoff 1996 - F - Italy - - - - no treatment known 1 LOVD
+?/. 4 c.575G>A - r.(?) p.(Arg192Gln) I S4 Unknown - likely pathogenic g.13482558C>T g.13371744C>T - - CACNA1A_000002 not in 100 controls; tested expression in vitro/in vivo PubMed: Ophoff 1996 - - Germline - - SfcI - - DNA PCR, SEQ - - migraine - PubMed: Ophoff 1996 - M - Italy - - - - no treatment known 1 LOVD
+?/. 4 c.575G>A - r.(?) p.(Arg192Gln) I S4 Unknown - likely pathogenic g.13482558C>T g.13371744C>T - - CACNA1A_000002 not in 100 controls; tested expression in vitro/in vivo PubMed: Ophoff 1996 - - Germline - - SfcI - - DNA PCR, SEQ - - migraine - PubMed: Ophoff 1996 - F - Italy - - - - no treatment known 1 LOVD
+?/. 4 c.575G>A - r.(?) p.(Arg192Gln) I S4 Unknown - likely pathogenic g.13482558C>T g.13371744C>T - - CACNA1A_000002 not in 100 controls; tested expression in vitro/in vivo PubMed: Ophoff 1996 - - Germline - - SfcI - - DNA PCR, SEQ - - migraine - PubMed: Ophoff 1996 - M - Italy - - - - no treatment known 1 LOVD
-/. 4 c.579G>A - r.(?) p.(=) - Unknown - benign g.13482554C>T g.13371740C>T p.Thr193Thr - CACNA1A_000003 - - - rs41276894 Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Elles Boon
-/. 4 c.579G>A - r.(?) p.(=) - Unknown - benign g.13482554C>T g.13371740C>T p.Thr193Thr - CACNA1A_000003 - - - - Germline - - - - - DNA SEQ - - ? - - - - - (Germany) - - - - - 1 Birgit Neitzel
-/. - c.579G>A - r.(?) p.(Thr193=) - Unknown - benign g.13482554C>T g.13371740C>T CACNA1A(NM_000068.3):c.579G>A (p.(Thr193=)), CACNA1A(NM_023035.2):c.579G>A (p.T193=), CACNA1A(NM_023035.3):c.579G>A (p.T193=) - CACNA1A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 4 c.579G>A - r.(?) p.(=) I S3 Unknown - likely benign g.13482554C>T g.13371740C>T - - CACNA1A_000003 - PubMed: Ophoff 1996 - rs41276894 Germline - 0.02 in 100 - - - DNA PCR, SEQ - - migraine - PubMed: Ophoff 1996 - - - - - - - - no treatment known 1 LOVD
-?/. 4 c.579G>A - r.(?) p.(=) I S3 Unknown - likely benign g.13482554C>T g.13371740C>T - - CACNA1A_000003 - PubMed: Ducros 1999 - rs41276894 Germline - 0.02 in 100 - - - DNA SEQ, SSCA - - migraine - PubMed: Ducros 1999 Polymorphism observed in HM/PCA patients. Frequency in controls from Ophoff et al, 1996. - - France - - - - - 1 LOVD
-/. - c.579G>A - r.(?) p.(Thr193=) - Unknown - benign g.13482554C>T g.13371740C>T CACNA1A(NM_000068.3):c.579G>A (p.(Thr193=)), CACNA1A(NM_023035.2):c.579G>A (p.T193=), CACNA1A(NM_023035.3):c.579G>A (p.T193=) - CACNA1A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.579G>A - r.(?) p.(Thr193=) - Unknown - likely benign g.13482554C>T g.13371740C>T CACNA1A(NM_000068.3):c.579G>A (p.(Thr193=)), CACNA1A(NM_023035.2):c.579G>A (p.T193=), CACNA1A(NM_023035.3):c.579G>A (p.T193=) - CACNA1A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.579G>A - r.(?) p.(Thr193=) - Unknown - benign g.13482554C>T - CACNA1A(NM_000068.3):c.579G>A (p.(Thr193=)), CACNA1A(NM_023035.2):c.579G>A (p.T193=), CACNA1A(NM_023035.3):c.579G>A (p.T193=) - CACNA1A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? 4 c.584G>A - r.(?) p.(Arg195Lys) I S4 Unknown - pathogenic g.13482549C>T g.13371735C>T - - CACNA1A_000055 not in 200 controls PubMed: Ducros 2001 - - Germline - - - - - DNA SEQ - - migraine - PubMed: Ducros 2001 In this family (N.19) 5 patients carry the p.Arg195Lys: all the patients affected by pure hemiplegic migraine (HM). - - - European - - - - 1 LOVD
+/. - c.592C>T - r.(?) p.(Arg198Ter) - Unknown - pathogenic g.13482541G>A - CACNA1A(NM_001127221.1):c.592C>T (p.(Arg198*)) - CACNA1A_000406 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.601C>T - r.(?) p.(Arg201Trp) - Unknown - VUS g.13482532G>A g.13371718G>A - - CACNA1A_000267 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 4 c.612G>A - r.(?) p.Lys204Lys - Unknown - benign g.13482521C>T g.13371707C>T - - CACNA1A_000266 - - - - Germline - - - - - DNA SEQ - - ? - - - - - (Germany) - - - - - 1 Birgit Neitzel
-?/. - c.618G>A - r.(?) p.(=) - Unknown - likely benign g.13482515C>T - - - CACNA1A_000572 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.632-51T>G - r.(=) p.(=) - Unknown - likely benign g.13476334A>C g.13365520A>C CACNA1A(NM_023035.3):c.632-51T>G - CACNA1A_000265 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.638A>T - r.(?) p.(Gln213Leu) - Unknown - VUS g.13476277T>A - CACNA1A(NM_001127221.1):c.638A>T (p.(Gln213Leu)) - CACNA1A_000485 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.653C>T - r.(?) p.(Ser218Leu) - Unknown - VUS g.13476262G>A g.13365448G>A - - CACNA1A_000004 father unavailable - - rs121908225 Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - EE - PubMed: Epi4K consortium 2016, Journal: Epi4K consortium 2016 father unavailable F - - - - - - - 1 Johan den Dunnen
?/? 5 c.653C>T - r.(?) p.(Ser218Leu) - Unknown - NA g.13476262G>A g.13365448G>A - - CACNA1A_000004 tested expression in vitro/in vivo PubMed: 15743764 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.653C>T - r.(?) p.(Ser218Leu) I S4-S5 Unknown - pathogenic g.13476262G>A g.13365448G>A - - CACNA1A_000004 tested expression in vitro/in vivo PubMed: Kors 2001 - - Germline - - - - - DNA PCR, SEQ - - ? - PubMed: Kors 2001 - F - United Kingdom (Great Britain) - - - - no treatment known 1 LOVD
+/. 5 c.653C>T - r.(?) p.(Ser218Leu) I S4-S5 Unknown - pathogenic g.13476262G>A g.13365448G>A - - CACNA1A_000004 tested expression in vitro/in vivo PubMed: Kors 2001 - - Germline - - - - - DNA PCR, SEQ - - migraine - PubMed: Kors 2001 - M - Australia white - - - no treatment known 1 LOVD
+/. 5 c.653C>T - r.(?) p.(Ser218Leu) I S4-S5 Unknown - pathogenic g.13476262G>A g.13365448G>A - - CACNA1A_000004 tested expression in vitro/in vivo PubMed: Kors 2001 - - Germline - - - - - DNA PCR, SEQ - - ataxia - PubMed: Kors 2001 - F - United Kingdom (Great Britain) - - - - no treatment known 1 LOVD
+/. 5 c.653C>T - r.(?) p.(Ser218Leu) I S4-S5 Unknown - pathogenic g.13476262G>A g.13365448G>A - - CACNA1A_000004 tested expression in vitro/in vivo PubMed: Kors 2001 - - Germline - - - - - DNA PCR, SEQ - - migraine - PubMed: Kors 2001 - M - United Kingdom (Great Britain) - - - - no treatment known 1 LOVD
+/. 5 c.653C>T - r.(?) p.(Ser218Leu) I S4-S5 Unknown - pathogenic g.13476262G>A g.13365448G>A - - CACNA1A_000004 tested expression in vitro/in vivo PubMed: Kors 2001 - - Germline - - - - - DNA PCR, SEQ - - migraine - PubMed: Kors 2001 - F - Australia white - - - no treatment known 1 LOVD
+/. 5 c.653C>T - r.(?) p.(Ser218Leu) I S4-S5 Unknown - pathogenic g.13476262G>A g.13365448G>A - - CACNA1A_000004 tested expression in vitro/in vivo PubMed: Kors 2001 - - Germline - - - - - DNA PCR, SEQ - - migraine - PubMed: Kors 2001 - M - Australia white - - - no treatment known 1 LOVD
+/. 5 c.653C>T - r.(?) p.(Ser218Leu) I S4-S5 Unknown - pathogenic g.13476262G>A g.13365448G>A - - CACNA1A_000004 tested expression in vitro/in vivo PubMed: Kors 2001 - - Germline - - - - - DNA PCR, SEQ - - migraine - PubMed: Kors 2001 - M - Australia white - - - no treatment known 1 LOVD
+?/. 5 c.653C>T - r.(?) p.(Ser218Leu) I S4-S5 Unknown - likely pathogenic g.13476262G>A g.13365448G>A 935C>T - CACNA1A_000004 - PubMed: Chan 2008 - - Germline - - - - - DNA SEQ - - migraine - PubMed: Chan 2008 At age 5 years the patient experienced five separate episodes of generalized tonic-clonic seizures triggered by mild head trauma; This may be a previously unrecognized feature of the S218L mutation; Both parents were asymptomatic and did not carry the S218L mutation, this suggests the presence of mosaicism in the transmitting parent; M - Malaysia - - - - - 1 LOVD
+?/. 5 c.653C>T - r.(?) p.(Ser218Leu) I S4-S5 Unknown - likely pathogenic g.13476262G>A g.13365448G>A 935C>T - CACNA1A_000004 - PubMed: Chan 2008 - - Germline - - - - - DNA SEQ - - migraine - PubMed: Chan 2008 Both parents were asymptomatic and did not carry the S218L mutation, this suggests the presence of mosaicism in the transmitting parent. F - Malaysia - - - - - 1 LOVD
+?/. 5 c.653C>T - r.(?) p.(Ser218Leu) I S4-S5 Unknown - likely pathogenic g.13476262G>A g.13365448G>A 935C>T - CACNA1A_000004 - PubMed: Chan 2008 - - Germline - - - - - DNA SEQ - - migraine - PubMed: Chan 2008 The patient had experienced a few episodes of simple febrile seizures in childhood; at age 4 years, during a febrile illness, he had had secondary generalized tonic-clonic seizures that started with eye deviation and jerking of the left hand; Both parents were asymptomatic and did not carry the S218L mutation, this suggests the presence of mosaicism in the transmitting parent. M - Malaysia - - - - - 1 LOVD
+/+? 5 c.653C>T - r.(?) p.(Ser218Leu) I S4-S5 Unknown - pathogenic g.13476262G>A g.13365448G>A - - CACNA1A_000004 - PubMed: Curtain 2006 - - Germline - - - - - DNA PCR, SEQ - - ? - PubMed: Curtain 2006 The case report emphasizes the involvementof the S218L in sporadic hemiplegic migraine,delayed cerebral edema and coma after minor head trauma. ; Clinical characteristics of the child from this study closely resembled the patient (Patient III-6 from Family 2) from the study by Kors et al. "Delayed cerebral edema and fatal coma after minor head trauma..."Ann Neurol,2001; Both subjects had delayed coma onset after head trauma following at 1 to 1,5 hours. Both required ventilation because pf poor respiration,and both had low-grade fever.White matter involvement became apparent in both patients, and over 8-9 days both subjects manifested neurologic deterioration with loss of brainstem reflexes; In this case report neither parent carried the S218L mutation. F - Australia - - - - yes 1 LOVD
+/+? 5 c.653C>T - r.(?) p.(Ser218Leu) I S4-S5 Unknown - pathogenic g.13476262G>A g.13365448G>A - - CACNA1A_000004 - PubMed: Zangaladze 2010 - - Germline - - - - - DNA SEQ - - migraine - PubMed: Zangaladze 2010 This patient experienced the rare triad of sporadic hemiplegic migraine, cerebellar symptoms, and epilepsy linked to a CACNA1A gene point mutation; The patient presented with severe,continuous,right-sided throbbing headache lasting several weeks and accompanied by profound left-sided weakness and mild confusion. At age 4, she had a head trauma and a few months later developed occasional secondarily generalized tonic-clonic seizures and complex partial seizures that remitted at age 7. F - United States - - - - Fosphenytoin intravenous, resolution symptoms 1 LOVD
+/. - c.653C>T - r.(?) p.(Ser218Leu) - Unknown - pathogenic g.13476262G>A g.13365448G>A - - CACNA1A_000004 - PubMed: Salinas 2020 VCV000008504.1 - Unknown - - - - - DNA SEQ-NG - gene panel ? Pat10 PubMed: Salinas 2020 patient F - - - - - - - 1 Johan den Dunnen
+?/. - c.757C>T - r.(?) p.(His253Tyr) - Unknown - likely pathogenic g.13476158G>A g.13365344G>A CACNA1A(NM_023035.3):c.757C>T (p.H253Y) - CACNA1A_000264 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.784+10C>T - r.(=) p.(=) - Unknown - likely benign g.13476121G>A - CACNA1A(NM_023035.2):c.784+10C>T - CACNA1A_000405 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.806C>T - r.(?) p.(Pro269Leu) - Unknown - VUS g.13470592G>A - CACNA1A(NM_001127222.2):c.806C>T (p.P269L) - CACNA1A_000479 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.832G>A - r.(?) p.(Ala278Thr) - Unknown - VUS g.13470566C>T g.13359752C>T CACNA1A(NM_023035.2):c.832G>A (p.A278T) - CACNA1A_000384 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.835C>T - r.(?) p.(Arg279Cys) - Unknown - likely pathogenic g.13470563G>A g.13359749G>A CACNA1A(NM_023035.3):c.835C>T (p.R279C) - CACNA1A_000263 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.835C>T - r.(?) p.(Arg279Cys) - Paternal (confirmed) - pathogenic g.13470563G>A g.13359749G>A - - CACNA1A_000263 - PubMed: Waters 2019 - - Germline yes - - - - DNA SEQ - - EA Fam3 PubMed: Waters 2019 3-generation family, affected father/daugther F - Canada - - - - - 2 Johan den Dunnen
+/. - c.835C>T - r.(?) p.(Arg279Cys) - Unknown - pathogenic g.13470563G>A - CACNA1A(NM_023035.3):c.835C>T (p.R279C) - CACNA1A_000263 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.838A>G - r.(?) p.(Thr280Ala) - Unknown - VUS g.13470560T>C g.13359746T>C CACNA1A(NM_023035.3):c.838A>G (p.T280A) - CACNA1A_000262 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.844C>T - r.(?) p.(Pro282Ser) - Unknown - VUS g.13470554G>A - CACNA1A(NM_001127222.2):c.844C>T (p.(Pro282Ser)) - CACNA1A_000569 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 6 c.876A>G - r.(?) p.(=) - Unknown - benign g.13470522T>C g.13359708T>C - - CACNA1A_000005 - - - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Elles Boon
-/. 6 c.876A>G - r.(?) p.(=) - Unknown - benign g.13470522T>C g.13359708T>C - - CACNA1A_000005 - - - rs1606 Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Elles Boon
-/. 6 c.876A>G - r.(?) p.(=) - Unknown - benign g.13470522T>C g.13359708T>C Glu292Glu - CACNA1A_000005 - - - - Germline - - - - - DNA SEQ - - ? - - - - - (Germany) - - - - - 1 Birgit Neitzel
-/. - c.876A>G - r.(?) p.(Glu292=) - Unknown - benign g.13470522T>C g.13359708T>C CACNA1A(NM_023035.2):c.876A>G (p.E292=), CACNA1A(NM_023035.3):c.876A>G (p.E292=) - CACNA1A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.876A>G - r.(?) p.(Glu292=) - Unknown - benign g.13470522T>C g.13359708T>C CACNA1A(NM_023035.2):c.876A>G (p.E292=), CACNA1A(NM_023035.3):c.876A>G (p.E292=) - CACNA1A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 6 c.876A>G - r.(?) p.(=) L I-II Unknown - likely benign g.13470522T>C g.13359708T>C - - CACNA1A_000005 - PubMed: Ophoff 1996 - rs16006 Germline - 0.07 in 100 - - - DNA PCR, SEQ - - migraine - PubMed: Ophoff 1996 - - - - - - - - no treatment known 1 LOVD
-?/. 6 c.876A>G - r.(?) p.(=) - Unknown - likely benign g.13470522T>C g.13359708T>C - - CACNA1A_000005 - PubMed: Ducros 1999 - rs16006 Germline - 0.07 in 100 - - - DNA SEQ, SSCA - - migraine - PubMed: Ducros 1999 Polimorphism observed in HM/PCA patients. Frequency in controls from Ophoff et al, 1996. - - France - - - - - 1 LOVD
-/. - c.876A>G - r.(?) p.(Glu292=) - Unknown - benign g.13470522T>C g.13359708T>C CACNA1A(NM_023035.2):c.876A>G (p.E292=), CACNA1A(NM_023035.3):c.876A>G (p.E292=) - CACNA1A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 6 c.889G>A - r.(?) p.(Gly297Arg) - Unknown ACMG likely pathogenic g.13470509C>T g.13359695C>T - - CACNA1A_000518 - - ClinVar-566307 rs1168625480 Germline yes - - - - DNA SEQ-NG-I peripheral blood WES ataxia - - - F - - (not applicable) white - - - - 1 Marketa Wayhelova
+?/. - c.899A>C - r.(?) p.(Gln300Pro) - Unknown ACMG VUS (!) g.13470499T>G - - - CACNA1A_000409 ACMG: PM2, PP2, PP3: class 3 - - - Germline ? - - - - DNA SEQ-NG-I - - SCA6 174205 - - M ? Germany - - - - - 1 Andreas Laner
?/. - c.904G>A - r.(?) p.(Asp302Asn) - Unknown - VUS g.13470494C>T g.13359680C>T CACNA1A(NM_023035.2):c.904G>A (p.D302N), CACNA1A(NM_023035.3):c.904G>A (p.D302N) - CACNA1A_000361 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.904G>A - r.(?) p.(Asp302Asn) - Unknown - pathogenic g.13470494C>T g.13359680C>T CACNA1A(NM_023035.2):c.904G>A (p.D302N), CACNA1A(NM_023035.3):c.904G>A (p.D302N) - CACNA1A_000361 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.904G>A - r.(?) p.(Asp302Asn) - Unknown ACMG likely pathogenic g.13470494C>T g.13359680C>T - - CACNA1A_000361 ACMG grading: PM1,PM2,PP1,PP3 Bürk et al. 2014. Eur J Med Genet 57: 207; Pradotto et al. 2016. J Neurol Sci 371: 81 - rs863224852 Germline - - - - - DNA SEQ-NG-S - - ? - - - M - - - - - - - 1 Andreas Laner
?/. - c.906C>A - r.(?) p.(Asp302Glu) - Unknown - VUS g.13470492G>T - CACNA1A(NM_023035.3):c.906C>A (p.D302E) - CACNA1A_000478 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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