Genomic variant #0000733297

Chromosome 7
DNA change (genomic) (Relative to hg19 / GRCh37) g.30100629G>T
Reference Copied from the Exome Variant Server
DB-ID PLEKHA8_000054
Frequency 1/4566
Freq. EA 1/3182
Freq. AA 0/1384
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PLEKHA8 NM_032639.3 ?/? c.1098+71G>T r.(=) p.(=)