Genomic variant #0000116891

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.151747595C>G
Reference Copied from the Exome Variant Server
DB-ID TDRKH_000015
Frequency 1/12028
Freq. EA 1/8246
Freq. AA 0/3782
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
TDRKH NM_006862.3 ?/? c.1482G>C r.(?) p.(Glu494Asp)