Genomic variant #0001962144

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.44109401C>T
Reference Copied from the Exome Variant Server
DB-ID EFHC2_000056
Frequency 1/9754
Freq. EA 0/6459
Freq. AA 1/3295
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EFHC2 NM_025184.3 ?/? c.858+39G>A r.(=) p.(=)