Genomic variant #0001962108

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.44037780G>T
Reference Copied from the Exome Variant Server
DB-ID EFHC2_000020
Frequency 1/9522
Freq. EA 1/6392
Freq. AA 0/3130
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EFHC2 NM_025184.3 ?/? c.1782C>A r.(?) p.(Asn594Lys)