Genomic variant #0001630983

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.73625210C>T
Reference Copied from the Exome Variant Server
DB-ID RECQL5_000073
Frequency 74/12154
Freq. EA 0/8284
Freq. AA 74/3870
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
RECQL5 NM_004259.6 ?/? c.2293G>A r.(?) p.(Ala765Thr)