Genomic variant #0001780546

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.45477876del
Reference Copied from the Exome Variant Server
DB-ID CLPTM1_000034
Frequency 8/12518
Freq. EA 7/8254
Freq. AA 1/4264
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CLPTM1 NM_001294.2 ?/? c.468+22del r.(=) p.(=)