Genomic variant #0000596743

Chromosome 5
DNA change (genomic) (Relative to hg19 / GRCh37) g.149754229C>T
Reference Copied from the Exome Variant Server
DB-ID TCOF1_000082
Frequency 157/12998
Freq. EA 0/8596
Freq. AA 157/4402
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
TCOF1 NM_000356.3 ?/? c.902C>T r.(?) p.(Ala301Val)