Genomic variant #0000116930

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.151751302C>T
Reference Copied from the Exome Variant Server
DB-ID TDRKH_000059
Frequency 1/12290
Freq. EA 0/8324
Freq. AA 1/3966
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
TDRKH NM_006862.3 ?/? c.742G>A r.(?) p.(Ala248Thr)