Genomic variant #0001962101

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.44035674C>T
Reference Copied from the Exome Variant Server
DB-ID EFHC2_000013
Frequency 421/9377
Freq. EA 356/6316
Freq. AA 65/3061
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EFHC2 NM_025184.3 ?/? c.1950-44G>A r.(=) p.(=)