Genomic variant #0001993460

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.152864513_152864514insC
Reference Copied from the Exome Variant Server
DB-ID FAM58A_000031
Frequency 2581/3094
Freq. EA 1780/2129
Freq. AA 801/965
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
FAM58A NM_152274.3 ?/? c.16_17insG r.(?) p.(Gly7Argfs*51)