Genomic variant #0000116903

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.151748310C>T
Reference Copied from the Exome Variant Server
DB-ID TDRKH_000027
Frequency 1/11872
Freq. EA 0/8174
Freq. AA 1/3698
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
TDRKH NM_006862.3 ?/? c.1268G>A r.(?) p.(Arg423Gln)