Full data view for gene CACNA1A

Information The variants shown are described using the NM_000068.3 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

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Variant/VariO/DNA     

Variant/VariO/protein     

Allele     

DNA change (genomic) (hg19)     

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Owner     
./. 6 c.877G>C r.(?) p.(Gly293Arg) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.13470521C>G Yue Q1, Jen JC, Nelson SF, Baloh RW.(1997) CACNA1A_000001 - ? ? SCA Yue Q1, Jen JC, Nelson SF, Baloh RW.(1997) - - 1 Y Yang
./. 6 c.904G>A r.(?) p.(Asp302Asn) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.13470494C>T Bürk K1, Kaiser FJ2, Tennstedt S3, Sch?ls L4, Kreuz FR5, Wieland T6, Strom TM7, Büttner T8, Hollstein R2, Braunholz D2, Plaschke J5, Gillessen-Kaesbach G2, Zühlke C9.(2014) CACNA1A_000004 - ? ? SCA Bürk K1, Kaiser FJ2, Tennstedt S3, Sch?ls L4, Kreuz FR5, Wieland T6, Strom TM7, Büttner T8, Hollstein R2, Braunholz D2, Plaschke J5, Gillessen-Kaesbach G2, Zühlke C9.(2014) - - 1 Y Yang
./. 13 c.1748G>A r.(?) p.(Arg583Gln) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.13419266C>T Battistini S1, Stenirri S, Piatti M, Gelfi C, Righetti PG, Rocchi R, Giannini F, Battistini N, Guazzi GC, Ferrari M, Carrera P.(1999) CACNA1A_000002 - ? ? SCA Battistini S1, Stenirri S, Piatti M, Gelfi C, Righetti PG, Rocchi R, Giannini F, Battistini N, Guazzi GC, Ferrari M, Carrera P.(1999) - - 1 Y Yang
./. 13 c.1748G>A r.(?) p.(Arg583Gln) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.13419266C>T Bürk K1, Kaiser FJ2, Tennstedt S3, Sch?ls L4, Kreuz FR5, Wieland T6, Strom TM7, Büttner T8, Hollstein R2, Braunholz D2, Plaschke J5, Gillessen-Kaesbach G2, Zühlke C9.(2014) CACNA1A_000002 - ? ? SCA Bürk K1, Kaiser FJ2, Tennstedt S3, Sch?ls L4, Kreuz FR5, Wieland T6, Strom TM7, Büttner T8, Hollstein R2, Braunholz D2, Plaschke J5, Gillessen-Kaesbach G2, Zühlke C9.(2014) - - 1 Y Yang
./. 16 c.2002G>A r.(?) p.(Glu668Lys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.13414686C>T Bürk K1, Kaiser FJ2, Tennstedt S3, Sch?ls L4, Kreuz FR5, Wieland T6, Strom TM7, Büttner T8, Hollstein R2, Braunholz D2, Plaschke J5, Gillessen-Kaesbach G2, Zühlke C9.(2014) CACNA1A_000003 - ? ? SCA Bürk K1, Kaiser FJ2, Tennstedt S3, Sch?ls L4, Kreuz FR5, Wieland T6, Strom TM7, Büttner T8, Hollstein R2, Braunholz D2, Plaschke J5, Gillessen-Kaesbach G2, Zühlke C9.(2014) - - 1 Y Yang
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