Genomic variant #0000697253

Chromosome 6
DNA change (genomic) (Relative to hg19 / GRCh37) g.139265165_139265166insT
Reference Copied from the Exome Variant Server
DB-ID REPS1_000108
Frequency 2/12518
Freq. EA 0/8254
Freq. AA 2/4264
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
REPS1 NM_001128617.1 ?/? c.754-14_754-13insA r.(=) p.(=)