Genomic variant #0000733302

Chromosome 7
DNA change (genomic) (Relative to hg19 / GRCh37) g.30102274T>C
Reference Copied from the Exome Variant Server
DB-ID PLEKHA8_000059
Frequency 6/13004
Freq. EA 6/8598
Freq. AA 0/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PLEKHA8 NM_032639.3 ?/? c.1230-14T>C r.(=) p.(=)