Genomic variant #0001962167

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.44171953T>C
Reference Copied from the Exome Variant Server
DB-ID EFHC2_000079
Frequency 579/9521
Freq. EA 474/6399
Freq. AA 105/3122
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EFHC2 NM_025184.3 ?/? c.92A>G r.(?) p.(Asn31Ser)