Genomic variant #0001955216

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.17745294_17745303del
Reference Copied from the Exome Variant Server
DB-ID NHS_000087
Frequency 4/10203
Freq. EA 3/6483
Freq. AA 1/3720
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
NHS NM_198270.2 ?/? c.3005_3014del r.(?) p.(Ser1002Lysfs*43)