Genomic variant #0000979719

Chromosome 10
DNA change (genomic) (Relative to hg19 / GRCh37) g.27412491_27412492insA
Reference Copied from the Exome Variant Server
DB-ID YME1L1_000049
Frequency 1/12518
Freq. EA 0/8254
Freq. AA 1/4264
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
YME1L1 NM_139312.2 ?/? c.1257_1258insT r.(?) p.(Ile420Tyrfs*6)