Genomic variant #0001723757

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.12060330_12060331del
Reference Copied from the Exome Variant Server
DB-ID ZNF700_000089
Frequency 3/12516
Freq. EA 2/8254
Freq. AA 1/4262
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ZNF700 NM_144566.1 ?/? c.1491_1492del r.(?) p.(Ile499Lysfs*10)