Genomic variant #0001592080

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.40120250C>T
Reference Copied from the Exome Variant Server
DB-ID CNP_000004
Frequency 1/12760
Freq. EA 1/8480
Freq. AA 0/4280
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CNP NM_033133.4 ?/? c.168C>T r.(=) p.(=)