Genomic variant #0001962098

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.44035607T>C
Reference Copied from the Exome Variant Server
DB-ID EFHC2_000010
Frequency 1/9505
Freq. EA 1/6401
Freq. AA 0/3104
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EFHC2 NM_025184.3 ?/? c.1973A>G r.(?) p.(Asp658Gly)