Genomic variant #0001563392

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.17127473C>T
Reference Copied from the Exome Variant Server
DB-ID FLCN_000089
Frequency 5/12982
Freq. EA 3/8582
Freq. AA 2/4400
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
FLCN NM_144606.5 ?/? c.397-16G>A r.(=) p.(=)