Genomic variant #0000733269

Chromosome 7
DNA change (genomic) (Relative to hg19 / GRCh37) g.30092428G>T
Reference Copied from the Exome Variant Server
DB-ID PLEKHA8_000026
Frequency 1/12940
Freq. EA 1/8580
Freq. AA 0/4360
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PLEKHA8 NM_032639.3 ?/? c.742G>T r.(?) p.(Ala248Ser)