Genomic variant #0001490234

Chromosome 16
DNA change (genomic) (Relative to hg19 / GRCh37) g.50128688C>G
Reference Copied from the Exome Variant Server
DB-ID HEATR3_000084
Frequency 3/12996
Freq. EA 3/8600
Freq. AA 0/4396
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
HEATR3 NM_182922.2 ?/? c.1583C>G r.(?) p.(Ser528Cys)