Genomic variant #0001962129

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.44094714_44094717del
Reference Copied from the Exome Variant Server
DB-ID EFHC2_000041
Frequency 2/9133
Freq. EA 2/6136
Freq. AA 0/2997
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EFHC2 NM_025184.3 ?/? c.1281-24_1281-21del r.(=) p.(=)