Genomic variant #0001176112

Chromosome 12
DNA change (genomic) (Relative to hg19 / GRCh37) g.8990134C>T
Reference Copied from the Exome Variant Server
DB-ID A2ML1_000078
Frequency 1/12570
Freq. EA 1/8442
Freq. AA 0/4128
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
A2ML1 NM_144670.4 ?/? c.827C>T r.(?) p.(Pro276Leu)