Genomic variant #0001962148

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.44109565C>T
Reference Copied from the Exome Variant Server
DB-ID EFHC2_000060
Frequency 1/9818
Freq. EA 0/6470
Freq. AA 1/3348
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EFHC2 NM_025184.3 ?/? c.733G>A r.(?) p.(Asp245Asn)