Genomic variant #0001996322

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.153631119C>T
Reference Copied from the Exome Variant Server
DB-ID DNASE1L1_000049
Frequency 55/10563
Freq. EA 0/6728
Freq. AA 55/3835
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
DNASE1L1 NM_001009932.1 ?/? c.838G>A r.(?) p.(Val280Ile)