Transcript #00004256

Transcript name transcript variant 2
Gene name CACNB4 (calcium channel, voltage-dependent, beta 4 subunit)
Chromosome 2
Transcript - NCBI ID NM_000726.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000717.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

46 entries on 1 page. Showing entries 1 - 46.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.-25G>T likely benign r.(?) p.(=)
-?/. - c.5C>T likely benign r.(?) p.(Ser2Phe)
-?/. - c.8C>T likely benign r.(?) p.(Ser3Phe)
?/. - c.40G>A VUS r.(?) p.(Gly14Arg)
-?/. - c.44C>G likely benign r.(?) p.(Pro15Arg)
-?/. - c.64-225G>A likely benign r.(=) p.(=)
-?/. - c.64-207C>T likely benign r.(=) p.(=)
-/. - c.147+53C>G benign r.(=) p.(=)
-?/. - c.148-90285T>C likely benign r.(=) p.(=)
-/. - c.148-90227C>T benign r.(=) p.(=)
-?/. - c.148-90227dup likely benign r.(=) p.(=)
-/. - c.148-87997C>A benign r.(=) p.(=)
-/. - c.268-36C>T benign r.(=) p.(=)
-/. - c.268-16A>G benign r.(=) p.(=)
?/. - c.272A>T VUS r.(?) p.(Lys91Ile)
?/. - c.272A>T VUS r.(?) p.(Lys91Ile)
?/. - c.301G>C VUS r.(?) p.(Val101Leu)
?/. - c.311G>T VUS r.(?) p.(Cys104Phe)
?/. - c.311G>T VUS r.(?) p.(Cys104Phe)
?/. - c.311G>T VUS r.(?) p.(Cys104Phe)
-/. - c.391-13T>G benign r.(=) p.(=)
-?/. - c.507A>G likely benign r.(?) p.(=)
-?/. - c.522-175T>G likely benign r.(=) p.(=)
-?/. - c.598+326A>T likely benign r.(=) p.(=)
-?/. - c.598+336A>T likely benign r.(=) p.(=)
-/. - c.599-15G>A benign r.(=) p.(=)
-?/. - c.599-15G>A likely benign r.(=) p.(=)
-/. - c.655A>G benign r.(?) p.(Met219Val)
-/. - c.762T>A benign r.(?) p.(=)
-?/. - c.771G>A likely benign r.(?) p.(=)
-?/. - c.792T>C likely benign r.(?) p.(=)
?/. - c.844C>T VUS r.(?) p.(Arg282Cys)
?/. - c.845G>A VUS r.(?) p.(Arg282His)
-?/. - c.868+103C>A likely benign r.(=) p.(=)
-?/. - c.1020+13T>G likely benign r.(=) p.(=)
-?/. - c.1116+18T>C likely benign r.(=) p.(=)
-?/. - c.1116+161T>C likely benign r.(=) p.(=)
-/. - c.1239G>A benign r.(?) p.(=)
-?/. - c.1303-135T>G likely benign r.(=) p.(=)
?/. - c.1303-3T>C VUS r.spl? p.?
-?/. - c.1303-3T>C likely benign r.spl? p.?
-?/. - c.1303-3T>C likely benign r.spl? p.?
-?/. - c.1413G>A likely benign r.(?) p.(=)
-?/. - c.1536T>C likely benign r.(?) p.(=)
-/. - c.*151del benign r.(?) p.(=)
-?/. - c.*10736T>C likely benign r.(=) p.(=)
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