Genomic variant #0001955213

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.17745135C>T
Reference Copied from the Exome Variant Server
DB-ID NHS_000082
Frequency 2/10563
Freq. EA 1/6728
Freq. AA 1/3835
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
NHS NM_198270.2 ?/? c.2846C>T r.(?) p.(Thr949Met)