Genomic variant #0000596691

Chromosome 5
DNA change (genomic) (Relative to hg19 / GRCh37) g.149748420_149748422del
Reference Copied from the Exome Variant Server
DB-ID TCOF1_000030
Frequency 2/12518
Freq. EA 2/8254
Freq. AA 0/4264
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
TCOF1 NM_000356.3 ?/? c.520_522del r.(?) p.(Glu176del)