All variants in the ATP6AP2 gene

Information The variants shown are described using the NM_005765.2 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     
+/. 4 c.321C>T r.301_396del p.Ala101_Glu132del - pathogenic g.40456521C>T g.40597269C>T - - ATP6AP2_000007 variant not in 1200 control chromosomes PubMed: Ramser 2005 - - Germline yes - - 0 - Johan den Dunnen
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