Genomic variant #0000116927

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.151751266C>T
Reference Copied from the Exome Variant Server
DB-ID TDRKH_000053
Frequency 2/12220
Freq. EA 2/8306
Freq. AA 0/3914
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
TDRKH NM_006862.3 ?/? c.778G>A r.(?) p.(Asp260Asn)