Genomic variant #0001176073

Chromosome 12
DNA change (genomic) (Relative to hg19 / GRCh37) g.8982331C>T
Reference Copied from the Exome Variant Server
DB-ID A2ML1_000042
Frequency 1/12242
Freq. EA 1/8320
Freq. AA 0/3922
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
A2ML1 NM_144670.4 ?/? c.418C>T r.(?) p.(Arg140Cys)