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.-126_1359-303[2] r.-126_1358::[NM_001039211.2:690_*1628] p.Met1_Gly453::[NP_060658.3:Leu231_Ser411] - pathogenic (dominant) g.1392270_1460317dup g.1456890_1524937dup - - ATAD3A_000044 - PubMed: Gunning 2020, Journal: Wortmann 2020 - - De novo - - - 0 - Johan den Dunnen
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