Genomic variant #0001984004

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.118540539_118540540insAGG
Reference Copied from the Exome Variant Server
DB-ID SLC25A43_000004
Frequency 1/10205
Freq. EA 1/6484
Freq. AA 0/3721
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
SLC25A43 NM_145305.2 ?/? c.392_393insAGG r.(?) p.(Lys131_Thr132insGly)