Genomic variant #0000116945

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.151752417C>G
Reference Copied from the Exome Variant Server
DB-ID TDRKH_000069
Frequency 1/12000
Freq. EA 0/8224
Freq. AA 1/3776
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
TDRKH NM_006862.3 ?/? c.421+10G>C r.(=) p.(=)