Genomic variant #0001136473

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.95561199T>G
Reference Copied from the Exome Variant Server
DB-ID CEP57_000087
Frequency 2/12946
Freq. EA 1/8584
Freq. AA 1/4362
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CEP57 NM_014679.4 ?/? c.1127+8T>G r.(=) p.(=)