Genomic variant #0001955180

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.17743800C>A
Reference Copied from the Exome Variant Server
DB-ID NHS_000043
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     
NHS NM_198270.2 ?/? c.1511C>A r.(?) p.(Pro504His)