Genomic variant #0001978232

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.100615142T>C
Reference Copied from the Exome Variant Server
DB-ID BTK_000049
Frequency 1/10563
Freq. EA 1/6728
Freq. AA 0/3835
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
BTK NM_000061.2 ?/? c.777-4A>G r.spl? p.?