Genomic variant #0001965406

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.48891220T>G
Reference Copied from the Exome Variant Server
DB-ID TFE3_000040
Frequency 2/10563
Freq. EA 0/6728
Freq. AA 2/3835
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
TFE3 NM_006521.4 ?/? c.1060+21A>C r.(=) p.(=)