All variants in the ATAD3A gene

Information The variants shown are described using the NM_018188.3 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.1727G>A r.(?) p.(Arg576Gln) ACMG likely pathogenic g.1464680G>A g.1529300G>A 1727G>A (Arg576Gln) - ATAD3A_000063 ACMG PS2, PM2, PP3 PubMed: Courage 2021, Journal: Courage 2021 - - De novo - - - 0 - Johan den Dunnen
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