Genomic variant #0001962136

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.44107482T>G
Reference Copied from the Exome Variant Server
DB-ID EFHC2_000048
Frequency 3/6784
Freq. EA 3/4558
Freq. AA 0/2226
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EFHC2 NM_025184.3 ?/? c.1111+36A>C r.(=) p.(=)