Genomic variant #0001955151

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.17705942C>G
Reference Copied from the Exome Variant Server
DB-ID NHS_000014
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.646C>G r.(?) p.(Pro216Ala)