Genomic variant #0000553021

Chromosome 5
DNA change (genomic) (Relative to hg19 / GRCh37) g.65466047del
Reference Copied from the Exome Variant Server
DB-ID SREK1_000040
Frequency 1/12290
Freq. EA 1/8200
Freq. AA 0/4090
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
SREK1 NM_001077199.2 ?/? c.1121+49del r.(=) p.(=)