Genomic variant #0001965372

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.48887423A>C
Reference Copied from the Exome Variant Server
DB-ID TFE3_000006
Frequency 1/4525
Freq. EA 0/3107
Freq. AA 1/1418
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
TFE3 NM_006521.4 ?/? c.*246T>G r.(=) p.(=)