Genomic variant #0000116919

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.151748992T>C
Reference Copied from the Exome Variant Server
DB-ID TDRKH_000043
Frequency 50/12118
Freq. EA 48/8266
Freq. AA 2/3852
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
TDRKH NM_006862.3 ?/? c.967A>G r.(?) p.(Ile323Val)