Genomic variant #0000116918

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.151748973C>T
Reference Copied from the Exome Variant Server
DB-ID TDRKH_000042
Frequency 1/12144
Freq. EA 1/8276
Freq. AA 0/3868
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
TDRKH NM_006862.3 ?/? c.986G>A r.(?) p.(Arg329His)