Genomic variant #0000596730

Chromosome 5
DNA change (genomic) (Relative to hg19 / GRCh37) g.149753840C>A
Reference Copied from the Exome Variant Server
DB-ID TCOF1_000069
Frequency 1/12986
Freq. EA 1/8592
Freq. AA 0/4394
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
TCOF1 NM_000356.3 ?/? c.743C>A r.(?) p.(Ala248Asp)