Genomic variant #0000116892

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.151747624C>G
Reference Copied from the Exome Variant Server
DB-ID TDRKH_000016
Frequency 1/11954
Freq. EA 0/8222
Freq. AA 1/3732
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
TDRKH NM_006862.3 ?/? c.1453G>C r.(?) p.(Glu485Gln)