Genomic variant #0000596760

Chromosome 5
DNA change (genomic) (Relative to hg19 / GRCh37) g.149754599C>T
Reference Copied from the Exome Variant Server
DB-ID TCOF1_000094
Frequency 4/13004
Freq. EA 0/8598
Freq. AA 4/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
TCOF1 NM_000356.3 ?/? c.1130C>T r.(?) p.(Ala377Val)