Genomic variant #0000116932

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.151751392T>C
Reference Copied from the Exome Variant Server
DB-ID TDRKH_000063
Frequency 2/12434
Freq. EA 2/8356
Freq. AA 0/4078
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
TDRKH NM_006862.3 ?/? c.652A>G r.(?) p.(Ile218Val)