Genomic variant #0000697217

Chromosome 6
DNA change (genomic) (Relative to hg19 / GRCh37) g.139241479T>C
Reference Copied from the Exome Variant Server
DB-ID REPS1_000072
Frequency 1/13000
Freq. EA 1/8598
Freq. AA 0/4402
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
REPS1 NM_001128617.1 ?/? c.1346-26A>G r.(=) p.(=)