Genomic variant #0000730259

Chromosome 7
DNA change (genomic) (Relative to hg19 / GRCh37) g.23205502_23205503insCTTG
Reference Copied from the Exome Variant Server
DB-ID KLHL7_000046
Frequency 1/12518
Freq. EA 1/8254
Freq. AA 0/4264
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
KLHL7 NM_018846.4 ?/? c.978_979insCTTG r.(?) p.(Ala329Cysfs*26)