Genomic variant #0001982026

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.109919532C>T
Reference Copied from the Exome Variant Server
DB-ID CHRDL1_000001
Frequency 2/10563
Freq. EA 0/6728
Freq. AA 2/3835
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CHRDL1 NM_145234.3 ?/? c.1298G>A r.(?) p.(Arg433His)