Genomic variant #0001965381

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.48887806_48887808del
Reference Copied from the Exome Variant Server
DB-ID TFE3_000015
Frequency 34/10189
Freq. EA 20/6472
Freq. AA 14/3717
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
TFE3 NM_006521.4 ?/? c.1589_1591del r.(?) p.(Glu530del)