Genomic variant #0000733263

Chromosome 7
DNA change (genomic) (Relative to hg19 / GRCh37) g.30090017_30090018del
Reference Copied from the Exome Variant Server
DB-ID PLEKHA8_000014
Frequency 1/12452
Freq. EA 0/8218
Freq. AA 1/4234
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PLEKHA8 NM_032639.3 ?/? c.598-33_598-32del r.(=) p.(=)