Genomic variant #0000697247

Chromosome 6
DNA change (genomic) (Relative to hg19 / GRCh37) g.139264971_139264972del
Reference Copied from the Exome Variant Server
DB-ID REPS1_000102
Frequency 1/12518
Freq. EA 0/8254
Freq. AA 1/4264
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
REPS1 NM_001128617.1 ?/? c.916+18_916+19del r.(=) p.(=)