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.? r.? p.? - pathogenic (recessive) g.(1383089_?)_(?_1447325)del g.(1447709_?)_(?_1511945)del - - ATAD3A_000049 43 to 61 kb deletion; the other allele has a deletion like in patients S2/S3 but probably also involving a partial gene conversion PubMed: Desai 2017, Journal: Desai 2017 - - Germline - - - 0 - Johan den Dunnen
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