Genomic variant #0001965421

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.48895852G>A
Reference Copied from the Exome Variant Server
DB-ID TFE3_000055
Frequency 2/10549
Freq. EA 2/6722
Freq. AA 0/3827
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
TFE3 NM_006521.4 ?/? c.650C>T r.(?) p.(Thr217Ile)