Genomic variant #0000239443

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.70680434_70680435del
Reference Copied from the Exome Variant Server
DB-ID TGFA_000013
Frequency 1/12520
Freq. EA 1/8254
Freq. AA 0/4266
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
TGFA NM_001099691.2 ?/? c.387_388del r.(?) p.(Cys129*)