Genomic variant #0000596715

Chromosome 5
DNA change (genomic) (Relative to hg19 / GRCh37) g.149751643G>A
Reference Copied from the Exome Variant Server
DB-ID TCOF1_000054
Frequency 1/12042
Freq. EA 0/8228
Freq. AA 1/3814
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
TCOF1 NM_000356.3 ?/? c.640-2094G>A r.(=) p.(=)