Genomic variant #0001962160

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.44120574T>C
Reference Copied from the Exome Variant Server
DB-ID EFHC2_000072
Frequency 3/9601
Freq. EA 0/6403
Freq. AA 3/3198
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EFHC2 NM_025184.3 ?/? c.383-30A>G r.(=) p.(=)