Genomic variant #0001780611

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.45494252G>A
Reference Copied from the Exome Variant Server
DB-ID CLPTM1_000099
Frequency 26/13000
Freq. EA 0/8596
Freq. AA 26/4404
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CLPTM1 NM_001294.2 ?/? c.1419+49G>A r.(=) p.(=)