Genomic variant #0001962124

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.44094618C>T
Reference Copied from the Exome Variant Server
DB-ID EFHC2_000036
Frequency 2/9511
Freq. EA 0/6393
Freq. AA 2/3118
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EFHC2 NM_025184.3 ?/? c.1356G>A r.(?) p.(Met452Ile)