Individual #00004387



Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000004387 ? ? CACNA1A 1 Y Yang



Variants

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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Owner     

Gene     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
19 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 - Y Yang CACNA1A 13 NM_000068.3:c.1748G>A r.(?) p.(Arg583Gln) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution
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