Genomic variant #0000733268

Chromosome 7
DNA change (genomic) (Relative to hg19 / GRCh37) g.30092398A>C
Reference Copied from the Exome Variant Server
DB-ID PLEKHA8_000024
Frequency 2/12924
Freq. EA 0/8564
Freq. AA 2/4360
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PLEKHA8 NM_032639.3 ?/? c.712A>C r.(?) p.(Lys238Gln)