Genomic variant #0001965679

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.49030677C>G
Reference Copied from the Exome Variant Server
DB-ID PLP2_000022
Frequency 13/10563
Freq. EA 1/6728
Freq. AA 12/3835
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PLP2 NM_002668.2 ?/? c.346-5C>G r.spl? p.?