Genomic variant #0001962120

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.44091959T>G
Reference Copied from the Exome Variant Server
DB-ID EFHC2_000032
Frequency 32/9347
Freq. EA 1/6287
Freq. AA 31/3060
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EFHC2 NM_025184.3 ?/? c.1424-36A>C r.(=) p.(=)