Genomic variant #0001962145

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.44109460G>A
Reference Copied from the Exome Variant Server
DB-ID EFHC2_000057
Frequency 1/9730
Freq. EA 0/6462
Freq. AA 1/3268
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EFHC2 NM_025184.3 ?/? c.838C>T r.(?) p.(Arg280Trp)