All variants in the PPEF1 gene

Information The variants shown are described using the NM_006240.2 transcript reference sequence.

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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. _1_9i c.-481_(558+1_559-1){0} r.0 p.0 - pathogenic (recessive) g.(18665453_18674772)_(18779695_18797127)del g.(18647333_18656652)_(18761577_18779009)del - - RS1_000123 136 kb deletion from PPEF intron 9 to RS1 intron 3 also involving CDKL5 (STK9) PubMed: Huopaniemi - - Germline yes - - 0 - Johan den Dunnen
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