Genomic variant #0001965388

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.48887958C>G
Reference Copied from the Exome Variant Server
DB-ID TFE3_000022
Frequency 13/10562
Freq. EA 8/6727
Freq. AA 5/3835
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
TFE3 NM_006521.4 ?/? c.1439G>C r.(?) p.(Gly480Ala)