Genomic variant #0001333635

Chromosome 14
DNA change (genomic) (Relative to hg19 / GRCh37) g.65406162_65406165del
Reference Copied from the Exome Variant Server
DB-ID CHURC1-FNTB_000034
Frequency 1/11976
Freq. EA 1/8028
Freq. AA 0/3948
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CHURC1-FNTB NM_001202558.1 ?/? c.6+15318_6+15321del r.(=) p.(=)
GPX2 NM_002083.3 ?/? c.*41_*44del r.(=) p.(=)