Genomic variant #0001965411

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.48891729C>T
Reference Copied from the Exome Variant Server
DB-ID TFE3_000045
Frequency 15/10563
Freq. EA 0/6728
Freq. AA 15/3835
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
TFE3 NM_006521.4 ?/? c.923G>A r.(?) p.(Ser308Asn)