Genomic variant #0001176053

Chromosome 12
DNA change (genomic) (Relative to hg19 / GRCh37) g.8975888_8975889insCA
Reference Copied from the Exome Variant Server
DB-ID A2ML1_000019
Frequency 5/11600
Freq. EA 0/7896
Freq. AA 5/3704
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
A2ML1 NM_144670.4 ?/? c.173_174insCA r.(?) p.(Lys59Thrfs*9)