All variants in the ATAD3A gene

Information The variants shown are described using the NM_018188.3 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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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_658+54[0] r.[NM_031921.4:-101_514]::659_*615 p.[NP_060658.3:Met1_Ala172]::Thr221_Ser634 - pathogenic (recessive) g.1416370_1454423del g.1480990_1519043del - - ATAD3A_000045 - PubMed: Desai 2017, Journal: Desai 2017 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.-126_658+54[0] r.[NM_031921.4:-101_514]::659_*615 p.[NP_060658.3:Met1_Ala172]::Thr221_Ser634 - pathogenic (recessive) g.1416370_1454423del g.1480990_1519043del - - ATAD3A_000045 - PubMed: Desai 2017, Journal: Desai 2017 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.-126_658+54[0] r.[NM_031921.4:-101_514]::659_*615 p.[NP_060658.3:Met1_Ala172]::Thr221_Ser634 - pathogenic (recessive) g.1416370_1454423del g.1480990_1519043del - - ATAD3A_000045 - PubMed: Desai 2017, Journal: Desai 2017 - - Germline - - - 0 - Johan den Dunnen
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