Genomic variant #0000162230

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.201060955C>T
Reference Copied from the Exome Variant Server
DB-ID CACNA1S_000442
Frequency 1/12992
Freq. EA 1/8592
Freq. AA 0/4400
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CACNA1S NM_000069.2 ?/? c.542-35G>A r.(=) p.(=)