Genomic variant #0001052995

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.2189745C>T
Reference Copied from the Exome Variant Server
DB-ID TH_000096
Frequency 1/12912
Freq. EA 1/8540
Freq. AA 0/4372
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
TH NM_000360.3 ?/? c.463G>A r.(?) p.(Val155Met)