Genomic variant #0000116948

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.151752575_151752576del
Reference Copied from the Exome Variant Server
DB-ID TDRKH_000072
Frequency 1/12098
Freq. EA 1/8104
Freq. AA 0/3994
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
TDRKH NM_006862.3 ?/? c.272_273del r.(?) p.(Glu91Glyfs*5)