Genomic variant #0000162250

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.201063072G>C
Reference Copied from the Exome Variant Server
DB-ID CACNA1S_000462
Frequency 1/13006
Freq. EA 1/8600
Freq. AA 0/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CACNA1S NM_000069.2 ?/? c.336C>G r.(?) p.(Phe112Leu)