Genomic variant #0000116925

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.151751248A>C
Reference Copied from the Exome Variant Server
DB-ID TDRKH_000049
Frequency 1/12264
Freq. EA 0/8334
Freq. AA 1/3930
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
TDRKH NM_006862.3 ?/? c.796T>G r.(?) p.(Ser266Ala)