Genomic variant #0000697280

Chromosome 6
DNA change (genomic) (Relative to hg19 / GRCh37) g.139268890C>G
Reference Copied from the Exome Variant Server
DB-ID REPS1_000135
Frequency 1/13004
Freq. EA 1/8600
Freq. AA 0/4404
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
REPS1 NM_001128617.1 ?/? c.277+37G>C r.(=) p.(=)