Genomic variant #0001978264

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.100630173C>T
Reference Copied from the Exome Variant Server
DB-ID BTK_000081
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.100G>A r.(?) p.(Val34Met)