Genomic variant #0001129492

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.77580777G>C
Reference Copied from the Exome Variant Server
DB-ID AAMDC_000013
Frequency 2/12984
Freq. EA 2/8584
Freq. AA 0/4400
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AAMDC NM_024684.2 ?/? c.142G>C r.(?) p.(Gly48Arg)