Genomic variant #0000553019

Chromosome 5
DNA change (genomic) (Relative to hg19 / GRCh37) g.65466027_65466028insC
Reference Copied from the Exome Variant Server
DB-ID SREK1_000038
Frequency 1/12470
Freq. EA 1/8248
Freq. AA 0/4222
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+29_1121+30insC r.(=) p.(=)