Genomic variant #0000608043

Chromosome 5
DNA change (genomic) (Relative to hg19 / GRCh37) g.174919276_174919279del
Reference Copied from the Exome Variant Server
DB-ID SFXN1_000020
Frequency 1/12518
Freq. EA 0/8254
Freq. AA 1/4264
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
SFXN1 NM_022754.5 ?/? c.164+6_164+9del r.(=) p.(=)