Genomic variant #0001965672

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.49029750C>T
Reference Copied from the Exome Variant Server
DB-ID PLP2_000015
Frequency 1/10563
Freq. EA 1/6728
Freq. AA 0/3835
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PLP2 NM_002668.2 ?/? c.265C>T r.(?) p.(Leu89Phe)