Genomic variant #0001962122

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.44094564T>C
Reference Copied from the Exome Variant Server
DB-ID EFHC2_000034
Frequency 3/9457
Freq. EA 3/6371
Freq. AA 0/3086
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EFHC2 NM_025184.3 ?/? c.1410A>G r.(?) p.(Ile470Met)