All variants in the AP1S2 gene

Information The variants shown are described using the NM_003916.3 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     
./. - c.74_75del r.(?) p.(Lys25Argfs*19) - pathogenic g.15870574_15870575del g.15852451_15852452del AP1S2 K25Rfs*19 - AP1S2_000019 - PubMed: Hu 2016 - - Germline yes - - - - Johan den Dunnen
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