Genomic variant #0000116899

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.151748024C>G
Reference Copied from the Exome Variant Server
DB-ID TDRKH_000023
Frequency 1/12040
Freq. EA 1/8242
Freq. AA 0/3798
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
TDRKH NM_006862.3 ?/? c.1283-5G>C r.spl? p.?