Genomic variant #0001780528

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.45476382G>A
Reference Copied from the Exome Variant Server
DB-ID CLPTM1_000016
Frequency 1/13006
Freq. EA 0/8600
Freq. AA 1/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CLPTM1 NM_001294.2 ?/? c.224G>A r.(?) p.(Arg75Gln)