Genomic variant #0001965472

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.48924777C>T
Reference Copied from the Exome Variant Server
DB-ID CCDC120_000042
Frequency 1/10556
Freq. EA 1/6722
Freq. AA 0/3834
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CCDC120 NM_033626.2 ?/? c.1022C>T r.(?) p.(Ala341Val)