Genomic variant #0000596754

Chromosome 5
DNA change (genomic) (Relative to hg19 / GRCh37) g.149754487_149754488insCT
Reference Copied from the Exome Variant Server
DB-ID TCOF1_000097
Frequency 1/12504
Freq. EA 0/8248
Freq. AA 1/4256
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
TCOF1 NM_000356.3 ?/? c.1048-30_1048-29insCT r.(=) p.(=)