All transcript variants in gene CACNB4

Information The variants shown are described using the NM_000726.3 transcript reference sequence.

56 entries on 1 page. Showing entries 1 - 56.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-?/. - c.-25G>T r.(?) p.(=) - likely benign g.152955550C>A g.152099036C>A CACNB4(NM_000726.4):c.-25G>T - CACNB4_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.5C>T r.(?) p.(Ser2Phe) - likely benign g.152955521G>A g.152099007G>A CACNB4(NM_000726.4):c.5C>T (p.S2F) - CACNB4_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.5C>T r.(?) p.(Ser2Phe) - VUS g.152955521G>A g.152099007G>A - - CACNB4_000024 conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs200092211 Germline - 2/2792 individuals - 0 - Mohammed Faruq
-?/. - c.5C>T r.(?) p.(Ser2Phe) - likely benign g.152955521G>A g.152099007G>A CACNB4(NM_000726.4):c.5C>T (p.S2F) - CACNB4_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.8C>T r.(?) p.(Ser3Phe) - likely benign g.152955518G>A g.152099004G>A CACNB4(NM_000726.4):c.8C>T (p.S3F) - CACNB4_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.40G>A r.(?) p.(Gly14Arg) - VUS g.152955486C>T g.152098972C>T CACNB4(NM_000726.4):c.40G>A (p.G14R) - CACNB4_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.44C>G r.(?) p.(Pro15Arg) - likely benign g.152955482G>C g.152098968G>C CACNB4(NM_000726.4):c.44C>G (p.P15R) - CACNB4_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.64-225G>A r.(=) p.(=) - likely benign g.152955152C>T g.152098638C>T CACNB4(NM_000726.4):c.64-225G>A, CACNB4(NM_001005746.3):c.9+3G>A - CACNB4_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.64-225G>A r.(=) p.(=) - - g.152955152C>T - CACNB4(NM_000726.4):c.64-225G>A, CACNB4(NM_001005746.3):c.9+3G>A - CACNB4_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.64-207C>T r.(=) p.(=) - likely benign g.152955134G>A g.152098620G>A CACNB4(NM_000726.4):c.64-207C>T - CACNB4_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.147+53C>G r.(=) p.(=) - benign g.152954791G>C g.152098277G>C CACNB4(NM_000726.4):c.147+53C>G - CACNB4_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.148-90285T>C r.(=) p.(=) - likely benign g.152830169A>G g.151973655A>G CACNB4(NM_001005747.3):c.45+14T>C - CACNB4_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.148-90227C>T r.(=) p.(=) - benign g.152830111G>A g.151973597G>A CACNB4(NM_001005747.3):c.45+72C>T - CACNB4_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.148-90227dup r.(=) p.(=) - likely benign g.152830117dup g.151973603dup CACNB4(NM_001005747.3):c.45+72dupC - CACNB4_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.148-87997C>A r.(=) p.(=) - benign g.152827881G>T g.151971367G>T CACNB4(NM_001005747.3):c.45+2302C>A - CACNB4_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.222A>T r.(?) p.(Arg74=) - likely benign g.152739810T>A g.151883296T>A CACNB4(NM_001320722.2):c.81A>T (p.R27=) - CACNB4_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.268-36C>T r.(=) p.(=) - benign g.152737472G>A g.151880958G>A CACNB4(NM_001005747.3):c.166-36C>T - CACNB4_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.268-16A>G r.(=) p.(=) - benign g.152737452T>C g.151880938T>C CACNB4(NM_001005747.3):c.166-16A>G - CACNB4_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.272A>T r.(?) p.(Lys91Ile) - VUS g.152737432T>A g.151880918T>A CACNB4(NM_001005747.3):c.170A>T (p.K57I) - CACNB4_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.272A>T r.(?) p.(Lys91Ile) - VUS g.152737432T>A g.151880918T>A CACNB4(NM_001005747.3):c.170A>T (p.K57I) - CACNB4_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.301G>C r.(?) p.(Val101Leu) - VUS g.152737403C>G g.151880889C>G CACNB4(NM_000726.4):c.301G>C (p.V101L) - CACNB4_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.311G>T r.(?) p.(Cys104Phe) - VUS g.152737393C>A g.151880879C>A CACNB4(NM_001005747.3):c.209G>T (p.C70F), CACNB4(NM_001320722.2):c.170G>T (p.C57F) - CACNB4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.311G>T r.(?) p.(Cys104Phe) - VUS g.152737393C>A g.151880879C>A CACNB4(NM_001005747.3):c.209G>T (p.C70F), CACNB4(NM_001320722.2):c.170G>T (p.C57F) - CACNB4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.311G>T r.(?) p.(Cys104Phe) - VUS g.152737393C>A g.151880879C>A CACNB4(NM_001005747.3):c.209G>T (p.C70F), CACNB4(NM_001320722.2):c.170G>T (p.C57F) - CACNB4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.316G>A r.(?) p.(Ala106Thr) - VUS g.152737388C>T g.151880874C>T - - CACNB4_000044 - - - rs781542443 Germline - - - 0 - Andreas Laner
-/. - c.391-13T>G r.(=) p.(=) - benign g.152733083A>C g.151876569A>C CACNB4(NM_000726.4):c.391-13T>G - CACNB4_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.507A>G r.(?) p.(Gly169=) - likely benign g.152732954T>C g.151876440T>C CACNB4(NM_001320722.2):c.366A>G (p.G122=) - CACNB4_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.522-175T>G r.(=) p.(=) - likely benign g.152729182A>C g.151872668A>C CACNB4(NM_001005747.3):c.420-175T>G - CACNB4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.598+326A>T r.(=) p.(=) - likely benign g.152728605T>A g.151872091T>A CACNB4(NM_001005747.3):c.496+326A>T - CACNB4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.598+336A>T r.(=) p.(=) - likely benign g.152728595T>A g.151872081T>A CACNB4(NM_001005747.3):c.496+336A>T - CACNB4_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.599-15G>A r.(=) p.(=) - benign g.152727390C>T g.151870876C>T CACNB4(NM_000726.4):c.599-15G>A - CACNB4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.599-15G>A r.(=) p.(=) - likely benign g.152727390C>T g.151870876C>T CACNB4(NM_000726.4):c.599-15G>A - CACNB4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.655A>G r.(?) p.(Met219Val) - benign g.152727089T>C g.151870575T>C CACNB4(NM_001330114.1):c.1A>G (p.M1?) - CACNB4_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.655A>G r.(?) p.(Met219Val) - - g.152727089T>C - CACNB4(NM_001330114.1):c.1A>G (p.M1?) - CACNB4_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.762T>A r.(?) p.(Ile254=) - benign g.152717331A>T g.151860817A>T CACNB4(NM_000726.4):c.762T>A (p.I254=) - CACNB4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.771G>A r.(?) p.(Thr257=) - likely benign g.152717322C>T g.151860808C>T CACNB4(NM_001330117.1):c.213G>A (p.T71=) - CACNB4_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.792T>C r.(?) p.(Ser264=) - likely benign g.152717301A>G g.151860787A>G CACNB4(NM_001330117.1):c.234T>C (p.S78=) - CACNB4_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.844C>T r.(?) p.(Arg282Cys) - VUS g.152717249G>A g.151860735G>A CACNB4(NM_001005747.3):c.742C>T (p.R248C) - CACNB4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.845G>A r.(?) p.(Arg282His) - VUS g.152717248C>T g.151860734C>T CACNB4(NM_001330117.1):c.287G>A (p.R96H) - CACNB4_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.868+103C>A r.(=) p.(=) - likely benign g.152717122G>T g.151860608G>T CACNB4(NM_001005747.3):c.766+103C>A - CACNB4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.1020+13T>G r.(=) p.(=) - likely benign g.152711725A>C g.151855211A>C CACNB4(NM_001005747.3):c.918+13T>G - CACNB4_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1116+18T>C r.(=) p.(=) - likely benign g.152709944A>G g.151853430A>G CACNB4(NM_001005747.3):c.1014+18T>C - CACNB4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.1116+161T>C r.(=) p.(=) - likely benign g.152709801A>G g.151853287A>G CACNB4(NM_001005747.3):c.1014+161T>C - CACNB4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.1239G>A r.(?) p.(Leu413=) - benign g.152698480C>T g.151841966C>T CACNB4(NM_000726.4):c.1239G>A (p.L413=) - CACNB4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1303-135T>G r.(=) p.(=) - likely benign g.152696028A>C g.151839514A>C CACNB4(NM_001005747.3):c.1201-135T>G - CACNB4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.1303-3T>C r.spl? p.? - VUS g.152695896A>G g.151839382A>G CACNB4(NM_000726.3):c.1303-3T>C (p.?), CACNB4(NM_000726.4):c.1303-3T>C, CACNB4(NM_001005747.3):c.1201-3T>C - CACNB4_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1303-3T>C r.spl? p.? - likely benign g.152695896A>G g.151839382A>G CACNB4(NM_000726.3):c.1303-3T>C (p.?), CACNB4(NM_000726.4):c.1303-3T>C, CACNB4(NM_001005747.3):c.1201-3T>C - CACNB4_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1303-3T>C r.spl? p.? - likely benign g.152695896A>G g.151839382A>G CACNB4(NM_000726.3):c.1303-3T>C (p.?), CACNB4(NM_000726.4):c.1303-3T>C, CACNB4(NM_001005747.3):c.1201-3T>C - CACNB4_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1413G>A r.(?) p.(Arg471=) - likely benign g.152695783C>T g.151839269C>T CACNB4(NM_001005747.3):c.1311G>A (p.R437=), CACNB4(NM_001330117.1):c.855G>A (p.R285=), CACNB4(NM_001330117.2):c.855G>A (p.R285=) - CACNB4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.1413G>A r.(?) p.(Arg471=) - benign g.152695783C>T g.151839269C>T CACNB4(NM_001005747.3):c.1311G>A (p.R437=), CACNB4(NM_001330117.1):c.855G>A (p.R285=), CACNB4(NM_001330117.2):c.855G>A (p.R285=) - CACNB4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1413G>A r.(?) p.(Arg471=) - likely benign g.152695783C>T g.151839269C>T CACNB4(NM_001005747.3):c.1311G>A (p.R437=), CACNB4(NM_001330117.1):c.855G>A (p.R285=), CACNB4(NM_001330117.2):c.855G>A (p.R285=) - CACNB4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1536T>C r.(?) p.(Tyr512=) - likely benign g.152695660A>G g.151839146A>G CACNB4(NM_001005747.3):c.1434T>C (p.Y478=) - CACNB4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.*151del r.(?) p.(=) - benign g.152695492del g.151838978del CACNB4(NM_001005747.3):c.*151delA - CACNB4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.*865G>A r.(=) p.(=) - likely benign g.152694768C>T g.151838254C>T - - CACNB4_000042 26 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs75365487 Germline - 26/2794 individuals - 0 - Mohammed Faruq
-?/. - c.*4771G>A r.(=) p.(=) - likely benign g.152690862C>T g.151834348C>T - - CACNB4_000041 54 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs80248494 Germline - 54/2795 individuals - 0 - Mohammed Faruq
-?/. - c.*10736T>C r.(=) p.(=) - likely benign g.152684897A>G g.151828383A>G ARL5A(NM_001037174.1):c.-64+2T>C (p.(=)) - ARL5A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
Legend