Genomic variant #0000116885

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.151747244_151747245del
Reference Copied from the Exome Variant Server
DB-ID TDRKH_000009
Frequency 4/11732
Freq. EA 4/7954
Freq. AA 0/3778
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
TDRKH NM_006862.3 ?/? c.1574_1575del r.(?) p.(Thr525Argfs*27)