Genomic variant #0000697244

Chromosome 6
DNA change (genomic) (Relative to hg19 / GRCh37) g.139264746T>C
Reference Copied from the Exome Variant Server
DB-ID REPS1_000099
Frequency 2/12994
Freq. EA 2/8594
Freq. AA 0/4400
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
REPS1 NM_001128617.1 ?/? c.917-33A>G r.(=) p.(=)