Full data view for gene CACNA1A

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

1110 entries on 12 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     
-/. - c.(6911_7001)[ins15] CAG[18] r.(?) p.(Gln2313_Gln2325)insX5 - Maternal (inferred) - benign g.(13318647_13318737)[ins15] - - - CACNA1A_000279 - PubMed: Takiyama 1998 - - Germline no - - - - DNA PCR - - SCA 09702684-FamPatIII7 PubMed: Takiyama 1998 5-generation family, 13 affected (5F, 8M) F no Japan - - - - - 13 Johan den Dunnen
-?/. - c.(6911_7001)[ins15] CAG[18] r.(?) p.(Gln2313_Gln2325)insX5 - Maternal (inferred) - benign g.(13318647_13318737)[ins15] - - - CACNA1A_000279 - PubMed: Takiyama 1998 - - Germline no - - - - DNA PCR - - SCA 09702684-FamPatIII8 PubMed: Takiyama 1998 - M no Japan - - - - - 1 Johan den Dunnen
?/. - c.(6911_7001)[ins21] CAG[20] r.(?) p.(Gln2313_Gln2325)insX7 - Maternal (confirmed) - pathogenic (dominant) g.(13318647_13318737)[ins21] - - - CACNA1A_000111 de novo repeat expansion from 19 to 20 units PubMed: Shimazaki 2001 - - De novo - - - - - DNA PCR - - Healthy/Control 11311290-FamAPatII1 PubMed: Shimazaki 2001 extended family F - Japan - - - - - 1 Johan den Dunnen
+?/. - c.(6911_7001)[ins24] CAG[21] r.(?) p.(Gln2313_Gln2325)insX8 - Paternal (confirmed) - pathogenic (dominant) g.(13318647_13318737)[ins24] - - - CACNA1A_000112 - PubMed: Shimazaki 2001 - - Germline - - - - - DNA PCR - - Healthy/Control 11311290-FamAPatII1 PubMed: Shimazaki 2001 extended family F - Japan - - - - - 1 Johan den Dunnen
+/. - c.(6911_7001)[ins24] CAG[21] r.(?) p.(Gln2313_Gln2325)insX8 - Parent #1 - pathogenic (dominant) g.(13318647_13318737)[ins24] - - - CACNA1A_000110 - PubMed: Matsuyama 1997 - - Germline - 3/58 cases - - - DNA PCR - - SCA 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(6911_7001)[ins24] CAG[21] r.(?) p.(Gln2313_Gln2325)insX8 - Parent #1 - pathogenic (dominant) g.(13318647_13318737)[ins24] - - - CACNA1A_000110 - PubMed: Matsuyama 1997 - - Germline - 3/58 cases - - - DNA PCR - - SCA 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(6911_7001)[ins24] CAG[21] r.(?) p.(Gln2313_Gln2325)insX8 - Parent #1 - pathogenic (dominant) g.(13318647_13318737)[ins24] - - - CACNA1A_000110 - PubMed: Matsuyama 1997 - - Germline - 3/58 cases - - - DNA PCR - - SCA 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(6911_7001)[ins24] CAG[21] r.(?) p.(Gln2313_Gln2325)insX8 - Paternal (confirmed) - pathogenic (dominant) g.(13318647_13318737)[ins24] - - - CACNA1A_000110 - PubMed: Takiyama 1998 - - Germline yes - - - - DNA PCR - - SCA 09702684-FamPatIII7 PubMed: Takiyama 1998 5-generation family, 13 affected (5F, 8M) F no Japan - - - - - 13 Johan den Dunnen
+/. - c.(6911_7001)[ins24] CAG[21] r.(?) p.(Gln2313_Gln2325)insX8 - Both (homozygous) - pathogenic (dominant) g.(13318647_13318737)[ins24] - - - CACNA1A_000110 - PubMed: Takiyama 1998 - - Germline yes - - - - DNA PCR - - SCA 09702684-FamPatIV1 PubMed: Takiyama 1998 PatIV1 M - Japan - - - - - 1 Johan den Dunnen
+/. - c.(6911_7001)[ins24] CAG[21] r.(?) p.(Gln2313_Gln2325)insX8 - Paternal (confirmed) - pathogenic (dominant) g.(13318647_13318737)[ins24] - - - CACNA1A_000110 - PubMed: Takiyama 1998 - - Germline yes - - - - DNA PCR - - SCA 09702684-FamPatIII8 PubMed: Takiyama 1998 - M no Japan - - - - - 1 Johan den Dunnen
+/. - c.(6911_7001)[ins24] CAG[21] r.(?) p.(Gln2313_Gln2325)insX8 - Both (homozygous) - pathogenic (dominant) g.(13318647_13318737)[ins24] - - - CACNA1A_000110 - PubMed: Takiyama 1998 - - Germline yes - - - - DNA PCR - - SCA 09702684-FamPatIV5 PubMed: Takiyama 1998 - M yes Japan - - - - - 1 Johan den Dunnen
+/. - c.(6911_7001)[ins24] CAG[22] r.(?) p.(Gln2313_Gln2325)insX8 - Both (homozygous) - pathogenic (dominant) g.(13318647_13318737)[ins24] - - - CACNA1A_000110 - PubMed: Takiyama 1998 - - Germline - - - - - DNA PCR - - Healthy/Control 09702684-FamPatIV6 PubMed: Takiyama 1998 asymptomatic at 50y M yes Japan - >50y - - - 1 Johan den Dunnen
+/. - c.(6911_7001)[ins27] CAG[22] r.(?) p.(Gln2313_Gln2325)insX9 - Parent #1 - pathogenic (dominant) g.(13318647_13318737)[ins27] - - - CACNA1A_000109 - PubMed: Matsuyama 1997 - - Germline - 16/58 cases - - - DNA PCR - - SCA 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(6911_7001)[ins27] CAG[22] r.(?) p.(Gln2313_Gln2325)insX9 - Parent #1 - pathogenic (dominant) g.(13318647_13318737)[ins27] - - - CACNA1A_000109 - PubMed: Matsuyama 1997 - - Germline - 16/58 cases - - - DNA PCR - - SCA 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(6911_7001)[ins27] CAG[22] r.(?) p.(Gln2313_Gln2325)insX9 - Parent #1 - pathogenic (dominant) g.(13318647_13318737)[ins27] - - - CACNA1A_000109 - PubMed: Matsuyama 1997 - - Germline - 16/58 cases - - - DNA PCR - - SCA 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(6911_7001)[ins27] CAG[22] r.(?) p.(Gln2313_Gln2325)insX9 - Parent #1 - pathogenic (dominant) g.(13318647_13318737)[ins27] - - - CACNA1A_000109 - PubMed: Matsuyama 1997 - - Germline - 16/58 cases - - - DNA PCR - - SCA 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(6911_7001)[ins27] CAG[22] r.(?) p.(Gln2313_Gln2325)insX9 - Parent #1 - pathogenic (dominant) g.(13318647_13318737)[ins27] - - - CACNA1A_000109 - PubMed: Matsuyama 1997 - - Germline - 16/58 cases - - - DNA PCR - - SCA 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(6911_7001)[ins27] CAG[22] r.(?) p.(Gln2313_Gln2325)insX9 - Parent #1 - pathogenic (dominant) g.(13318647_13318737)[ins27] - - - CACNA1A_000109 - PubMed: Matsuyama 1997 - - Germline - 16/58 cases - - - DNA PCR - - SCA 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(6911_7001)[ins27] CAG[22] r.(?) p.(Gln2313_Gln2325)insX9 - Parent #1 - pathogenic (dominant) g.(13318647_13318737)[ins27] - - - CACNA1A_000109 - PubMed: Matsuyama 1997 - - Germline - 16/58 cases - - - DNA PCR - - SCA 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(6911_7001)[ins27] CAG[22] r.(?) p.(Gln2313_Gln2325)insX9 - Parent #1 - pathogenic (dominant) g.(13318647_13318737)[ins27] - - - CACNA1A_000109 - PubMed: Matsuyama 1997 - - Germline - 16/58 cases - - - DNA PCR - - SCA 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(6911_7001)[ins27] CAG[22] r.(?) p.(Gln2313_Gln2325)insX9 - Parent #1 - pathogenic (dominant) g.(13318647_13318737)[ins27] - - - CACNA1A_000109 - PubMed: Matsuyama 1997 - - Germline - 16/58 cases - - - DNA PCR - - SCA 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(6911_7001)[ins27] CAG[22] r.(?) p.(Gln2313_Gln2325)insX9 - Parent #1 - pathogenic (dominant) g.(13318647_13318737)[ins27] - - - CACNA1A_000109 - PubMed: Matsuyama 1997 - - Germline - 16/58 cases - - - DNA PCR - - SCA 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(6911_7001)[ins27] CAG[22] r.(?) p.(Gln2313_Gln2325)insX9 - Parent #1 - pathogenic (dominant) g.(13318647_13318737)[ins27] - - - CACNA1A_000109 - PubMed: Matsuyama 1997 - - Germline - 16/58 cases - - - DNA PCR - - SCA 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(6911_7001)[ins27] CAG[22] r.(?) p.(Gln2313_Gln2325)insX9 - Parent #1 - pathogenic (dominant) g.(13318647_13318737)[ins27] - - - CACNA1A_000109 - PubMed: Matsuyama 1997 - - Germline - 16/58 cases - - - DNA PCR - - SCA 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(6911_7001)[ins27] CAG[22] r.(?) p.(Gln2313_Gln2325)insX9 - Parent #1 - pathogenic (dominant) g.(13318647_13318737)[ins27] - - - CACNA1A_000109 - PubMed: Matsuyama 1997 - - Germline - 16/58 cases - - - DNA PCR - - SCA 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(6911_7001)[ins27] CAG[22] r.(?) p.(Gln2313_Gln2325)insX9 - Parent #1 - pathogenic (dominant) g.(13318647_13318737)[ins27] - - - CACNA1A_000109 - PubMed: Matsuyama 1997 - - Germline - 16/58 cases - - - DNA PCR - - SCA 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(6911_7001)[ins27] CAG[22] r.(?) p.(Gln2313_Gln2325)insX9 - Parent #1 - pathogenic (dominant) g.(13318647_13318737)[ins27] - - - CACNA1A_000109 - PubMed: Matsuyama 1997 - - Germline - 16/58 cases - - - DNA PCR - - SCA 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(6911_7001)[ins27] CAG[22] r.(?) p.(Gln2313_Gln2325)insX9 - Parent #1 - pathogenic (dominant) g.(13318647_13318737)[ins27] - - - CACNA1A_000109 - PubMed: Matsuyama 1997 - - Germline - 16/58 cases - - - DNA PCR - - SCA 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(6911_7001)[ins30] CAG[23] r.(?) p.(Gln2313_Gln2325)insX10 - Both (homozygous) - pathogenic (dominant) g.(13318647_13318737)[ins30] - - - CACNA1A_000092 - PubMed: Matsuyama 1997 - - Germline - - - - - DNA PCR - - SCA 09259274-PatHom PubMed: Matsuyama 1997 homozygous case - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(6911_7001)[ins30] CAG[23] r.(?) p.(Gln2313_Gln2325)insX10 - Parent #1 - pathogenic (dominant) g.(13318647_13318737)[ins30] - - - CACNA1A_000092 - PubMed: Matsuyama 1997 - - Germline - 11/58 cases - - - DNA PCR - - SCA 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(6911_7001)[ins30] CAG[23] r.(?) p.(Gln2313_Gln2325)insX10 - Parent #1 - pathogenic (dominant) g.(13318647_13318737)[ins30] - - - CACNA1A_000092 - PubMed: Matsuyama 1997 - - Germline - 11/58 cases - - - DNA PCR - - SCA 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(6911_7001)[ins30] CAG[23] r.(?) p.(Gln2313_Gln2325)insX10 - Parent #1 - pathogenic (dominant) g.(13318647_13318737)[ins30] - - - CACNA1A_000092 - PubMed: Matsuyama 1997 - - Germline - 11/58 cases - - - DNA PCR - - SCA 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(6911_7001)[ins30] CAG[23] r.(?) p.(Gln2313_Gln2325)insX10 - Parent #1 - pathogenic (dominant) g.(13318647_13318737)[ins30] - - - CACNA1A_000092 - PubMed: Matsuyama 1997 - - Germline - 11/58 cases - - - DNA PCR - - SCA 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(6911_7001)[ins30] CAG[23] r.(?) p.(Gln2313_Gln2325)insX10 - Parent #1 - pathogenic (dominant) g.(13318647_13318737)[ins30] - - - CACNA1A_000092 - PubMed: Matsuyama 1997 - - Germline - 11/58 cases - - - DNA PCR - - SCA 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(6911_7001)[ins30] CAG[23] r.(?) p.(Gln2313_Gln2325)insX10 - Parent #1 - pathogenic (dominant) g.(13318647_13318737)[ins30] - - - CACNA1A_000092 - PubMed: Matsuyama 1997 - - Germline - 11/58 cases - - - DNA PCR - - SCA 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(6911_7001)[ins30] CAG[23] r.(?) p.(Gln2313_Gln2325)insX10 - Parent #1 - pathogenic (dominant) g.(13318647_13318737)[ins30] - - - CACNA1A_000092 - PubMed: Matsuyama 1997 - - Germline - 11/58 cases - - - DNA PCR - - SCA 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(6911_7001)[ins30] CAG[23] r.(?) p.(Gln2313_Gln2325)insX10 - Parent #1 - pathogenic (dominant) g.(13318647_13318737)[ins30] - - - CACNA1A_000092 - PubMed: Matsuyama 1997 - - Germline - 11/58 cases - - - DNA PCR - - SCA 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(6911_7001)[ins30] CAG[23] r.(?) p.(Gln2313_Gln2325)insX10 - Parent #1 - pathogenic (dominant) g.(13318647_13318737)[ins30] - - - CACNA1A_000092 - PubMed: Matsuyama 1997 - - Germline - 11/58 cases - - - DNA PCR - - SCA 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(6911_7001)[ins30] CAG[23] r.(?) p.(Gln2313_Gln2325)insX10 - Parent #1 - pathogenic (dominant) g.(13318647_13318737)[ins30] - - - CACNA1A_000092 - PubMed: Matsuyama 1997 - - Germline - 11/58 cases - - - DNA PCR - - SCA 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(6911_7001)[ins33] CAG[24] r.(?) p.(Gln2313_Gln2325)insX11 - Parent #1 - pathogenic (dominant) g.(13318647_13318737)[ins33] - - - CACNA1A_000108 - PubMed: Matsuyama 1997 - - Germline - 13/58 cases - - - DNA PCR - - SCA 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(6911_7001)[ins33] CAG[24] r.(?) p.(Gln2313_Gln2325)insX11 - Parent #1 - pathogenic (dominant) g.(13318647_13318737)[ins33] - - - CACNA1A_000108 - PubMed: Matsuyama 1997 - - Germline - 13/58 cases - - - DNA PCR - - SCA 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(6911_7001)[ins33] CAG[24] r.(?) p.(Gln2313_Gln2325)insX11 - Parent #1 - pathogenic (dominant) g.(13318647_13318737)[ins33] - - - CACNA1A_000108 - PubMed: Matsuyama 1997 - - Germline - 13/58 cases - - - DNA PCR - - SCA 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(6911_7001)[ins33] CAG[24] r.(?) p.(Gln2313_Gln2325)insX11 - Parent #1 - pathogenic (dominant) g.(13318647_13318737)[ins33] - - - CACNA1A_000108 - PubMed: Matsuyama 1997 - - Germline - 13/58 cases - - - DNA PCR - - SCA 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(6911_7001)[ins33] CAG[24] r.(?) p.(Gln2313_Gln2325)insX11 - Parent #1 - pathogenic (dominant) g.(13318647_13318737)[ins33] - - - CACNA1A_000108 - PubMed: Matsuyama 1997 - - Germline - 13/58 cases - - - DNA PCR - - SCA 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(6911_7001)[ins33] CAG[24] r.(?) p.(Gln2313_Gln2325)insX11 - Parent #1 - pathogenic (dominant) g.(13318647_13318737)[ins33] - - - CACNA1A_000108 - PubMed: Matsuyama 1997 - - Germline - 13/58 cases - - - DNA PCR - - SCA 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(6911_7001)[ins33] CAG[24] r.(?) p.(Gln2313_Gln2325)insX11 - Parent #1 - pathogenic (dominant) g.(13318647_13318737)[ins33] - - - CACNA1A_000108 - PubMed: Matsuyama 1997 - - Germline - 13/58 cases - - - DNA PCR - - SCA 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(6911_7001)[ins33] CAG[24] r.(?) p.(Gln2313_Gln2325)insX11 - Parent #1 - pathogenic (dominant) g.(13318647_13318737)[ins33] - - - CACNA1A_000108 - PubMed: Matsuyama 1997 - - Germline - 13/58 cases - - - DNA PCR - - SCA 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(6911_7001)[ins33] CAG[24] r.(?) p.(Gln2313_Gln2325)insX11 - Parent #1 - pathogenic (dominant) g.(13318647_13318737)[ins33] - - - CACNA1A_000108 - PubMed: Matsuyama 1997 - - Germline - 13/58 cases - - - DNA PCR - - SCA 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(6911_7001)[ins33] CAG[24] r.(?) p.(Gln2313_Gln2325)insX11 - Parent #1 - pathogenic (dominant) g.(13318647_13318737)[ins33] - - - CACNA1A_000108 - PubMed: Matsuyama 1997 - - Germline - 13/58 cases - - - DNA PCR - - SCA 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(6911_7001)[ins33] CAG[24] r.(?) p.(Gln2313_Gln2325)insX11 - Parent #1 - pathogenic (dominant) g.(13318647_13318737)[ins33] - - - CACNA1A_000108 - PubMed: Matsuyama 1997 - - Germline - 13/58 cases - - - DNA PCR - - SCA 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(6911_7001)[ins33] CAG[24] r.(?) p.(Gln2313_Gln2325)insX11 - Parent #1 - pathogenic (dominant) g.(13318647_13318737)[ins33] - - - CACNA1A_000108 - PubMed: Matsuyama 1997 - - Germline - 13/58 cases - - - DNA PCR - - SCA 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - - - - 2 Johan den Dunnen
+/. - c.(6911_7001)[ins36] CAG[25] r.(?) p.(Gln2313_Gln2325)insX12 - Parent #1 - pathogenic (dominant) g.(13318647_13318737)[ins36] - - - CACNA1A_000107 - PubMed: Matsuyama 1997 - - Germline - 2/58 cases - - - DNA PCR - - SCA 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(6911_7001)[ins36] CAG[25] r.(?) p.(Gln2313_Gln2325)insX12 - Parent #1 - pathogenic (dominant) g.(13318647_13318737)[ins36] - - - CACNA1A_000107 - PubMed: Matsuyama 1997 - - Germline - 2/58 cases - - - DNA PCR - - SCA 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(6911_7001)[ins39] CAG[26] r.(?) p.(Gln2313_Gln2325)insX13 - Paternal (confirmed) - pathogenic (dominant) g.(13318647_13318737)[ins39] - CAG-26 - CACNA1A_000113 de novo repeat expansion from 20 to 26 units PubMed: Shimazaki 2001 - - De novo - - - - - DNA PCR - - ? 11311290-FamYPatIII1 PubMed: Shimazaki 2001 3-generation family, 1 affected, unaffected non-carrier parents M - Japan - - - - - 1 Johan den Dunnen
+/. - c.(6911_7001)[ins39] CAG[26] r.(?) p.(Gln2313_Gln2325)insX13 - Parent #1 - pathogenic (dominant) g.(13318647_13318737)[ins39] - - - CACNA1A_000106 - PubMed: Matsuyama 1997 - - Germline - 3/58 cases - - - DNA PCR - - SCA 09259274-Pat PubMed: Matsuyama 1997 homozygous case - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(6911_7001)[ins39] CAG[26] r.(?) p.(Gln2313_Gln2325)insX13 - Parent #1 - pathogenic (dominant) g.(13318647_13318737)[ins39] - - - CACNA1A_000106 - PubMed: Matsuyama 1997 - - Germline - 3/58 cases - - - DNA PCR - - SCA 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(6911_7001)[ins39] CAG[26] r.(?) p.(Gln2313_Gln2325)insX13 - Parent #1 - pathogenic (dominant) g.(13318647_13318737)[ins39] - - - CACNA1A_000106 - PubMed: Matsuyama 1997 - - Germline - 3/58 cases - - - DNA PCR - - SCA 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(6911_7001)[ins3] CAG[14] r.(?) p.(Gln2313_Gln2325)insX1 - Maternal (confirmed) - benign g.(13318647_13318737)[ins3] - - - CACNA1A_000280 - PubMed: Takiyama 1998 - - Germline yes - - - - DNA PCR - - SCA 09702684-FamPatIII6 PubMed: Takiyama 1998 - M no Japan - - - - - 1 Johan den Dunnen
+/. - c.(6911_7001)[ins42] CAG[27] r.(?) p.(Gln2313_Gln2325)insX14 - Parent #1 - pathogenic (dominant) g.(13318647_13318737)[ins42] - - - CACNA1A_000105 - PubMed: Matsuyama 1997 - - Germline - 1/58 cases - - - DNA PCR - - SCA 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(6911_7001)[ins51] CAG[30] r.(?) p.(Gln2313_Gln2325)insX17 - Parent #1 - pathogenic (dominant) g.(13318647_13318737)[ins51] - - - CACNA1A_000093 - PubMed: Matsuyama 1997 - - Germline - 2/58 cases - - - DNA PCR - - SCA 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(6911_7001)[ins51] CAG[30] r.(?) p.(Gln2313_Gln2325)insX17 - Parent #1 - pathogenic (dominant) g.(13318647_13318737)[ins51] - - - CACNA1A_000092 - PubMed: Matsuyama 1997 - - Germline - 2/58 cases - - - DNA PCR - - SCA 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - - - - 1 Johan den Dunnen
-/. - c.*120A>T - r.(?) p.(=) - Unknown - benign g.13318007T>A g.13207193T>A - - CACNA1A_000115 - - - - Germline - - - - - DNA SEQ - - ? - - - - - (Germany) - - - - - 1 Birgit Neitzel
?/. - c.*577C>T - r.(?) p.(=) - Unknown - VUS g.13317550G>A - CACNA1A(NM_001127222.2):c.*577C>T - CACNA1A_000507 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? - c.*634_*636del - r.(?) p.(=) - Unknown - VUS g.13317499_13317501del g.13206685_13206687del 7524+634_636delTAA - CACNA1A_000065 unclassified variant - - - Germline - - - - - DNA SEQ - - ? - - 2 brothers with innate factor IX-deficiency - - (Germany) - - - - - 1 Birgit Neitzel
?/? - c.*634_*636del - r.(?) p.(=) - Unknown - VUS g.13317499_13317501del g.13206685_13206687del 7524+634_636delTAA - CACNA1A_000065 - - - rs16016 Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Elles Boon
?/? - c.*634_*636del - r.(?) p.(=) - Unknown - VUS g.13317499_13317501del g.13206685_13206687del 7524+634_636delTAA - CACNA1A_000065 unclassified variant - - - Germline - >0.01 - - - DNA SEQ - - EA2 - - - - - (Germany) - - - - - 1 Birgit Neitzel
?/? - c.*635_*636del - r.(?) p.(=) - Unknown - VUS g.13317491_13317492del g.13206677_13206678del 7524+635_636delAA - CACNA1A_000066 unclassified variant - - - Germline - - - - - DNA SEQ - - EA2 - - - - - (Germany) - - - - - 1 Birgit Neitzel
-?/. - c.*66C>T - r.(?) p.(=) - Unknown - likely benign g.13318061G>A g.13207247G>A CACNA1A(NM_023035.3):c.*66C>T - CACNA1A_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-77A>C - r.(?) p.(=) - Unknown - benign g.13617115T>G g.13506301T>G - - CACNA1A_000278 - - - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Elles Boon
-/. - c.-69C>T - r.(?) p.(=) - Unknown - benign g.13617107G>A g.13506293G>A - - CACNA1A_000277 - - - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Elles Boon
-/. - c.-55_-53dup - r.(?) p.(=) - Unknown - benign g.13617112_13617114dup g.13506298_13506300dup - - CACNA1A_000001 - - - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Elles Boon
-?/. - 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
?/. - 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.(=) - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.293+53G>A - r.(?) p.(=) - Unknown - benign g.13616693C>T g.13505879C>T - - CACNA1A_000276 - - - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Elles Boon
-/. - c.293+53G>A - r.(?) p.(=) - Unknown - benign g.13616693C>T g.13505879C>T - - CACNA1A_000276 - - - rs16003 Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Elles Boon
-/. - 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+19233_293+19234del - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.400-28C>T - r.(?) p.(=) - Unknown - benign g.13563857G>A g.13453043G>A - - CACNA1A_000272 - - - - Germline - - - - - DNA SEQ - - ? - - - - - (Germany) - - - - - 3 Birgit Neitzel
-/. - 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.(=) - 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.(=) - 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.473C>T - r.(?) p.(Ala158Val) - Unknown - VUS g.13563756G>A - CACNA1A(NM_001127222.2):c.473C>T (p.(Ala158Val)) - CACNA1A_000581 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.(=) - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.574C>T - r.(?) p.(Arg192Trp) - Parent #1 - pathogenic (dominant) g.13482559G>A g.13371745G>A ref?:c.574C>T - CACNA1A_000575 - PubMed: Soden 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? CMH042 PubMed: Soden 2014 family, 1 affected - - United States - - - - - 1 Johan den Dunnen
-/. - c.575G>A - r.(?) p.(Arg192Gln) - Unknown - benign g.13482558C>T g.13371744C>T - - CACNA1A_000002 - - - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Elles Boon
+?/+? - 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
+?/+? - 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
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