Genomic variant #0000116933

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.151751394G>A
Reference Copied from the Exome Variant Server
DB-ID TDRKH_000065
Frequency 2/12432
Freq. EA 2/8354
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.650C>T r.(?) p.(Pro217Leu)