Full data view for gene ATAD3A

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

4 entries on 1 page. Showing entries 1 - 4.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.-126_1358+266{2} r.-126_1358::NM_001039211.2:r.690_*1628 p.Met1_Gly453::NP_060658.3:p.Leu231_Ser411 Unknown - pathogenic (dominant) g.1391996_1460043dup g.1456616_1524663dup - - ATAD3A_000043 - PubMed: Gunning 2020, Journal: Wortmann 2020 - - De novo - - - 0 - DNA PCR, SEQ, SEQ-NG - WES ? Pat1 PubMed: Gunning 2020, Journal: Wortmann 2020 - M - - - 3d 0 - - 1 Johan den Dunnen
+/. - c.-126_1358+266{2} r.-126_1358::NM_001039211.2:r.690_*1628 p.Met1_Gly453::NP_060658.3:p.Leu231_Ser411 Unknown - pathogenic (dominant) g.1391996_1460043dup g.1456616_1524663dup - - ATAD3A_000043 - PubMed: Gunning 2020, Journal: Wortmann 2020 - - De novo - - - 0 - DNA PCR, SEQ, SEQ-NG - WES ? Pat2 PubMed: Gunning 2020, Journal: Wortmann 2020 - F - - - 42d 0 - - 1 Johan den Dunnen
+/. - c.-126_1358+266{2} r.-126_1358::NM_001039211.2:r.690_*1628 p.Met1_Gly453::NP_060658.3:p.Leu231_Ser411 Unknown - pathogenic (dominant) g.1391996_1460043dup g.1456616_1524663dup - - ATAD3A_000043 - PubMed: Gunning 2020, Journal: Wortmann 2020 - - De novo - - - 0 - DNA PCR, SEQ, SEQ-NG - WES ? Pat3 PubMed: Gunning 2020, Journal: Wortmann 2020 - M - - - 5d 0 - - 1 Johan den Dunnen
+/. - c.-126_1358+266{2} r.-126_1358::NM_001039211.2:r.690_*1628 p.Met1_Gly453::NP_060658.3:p.Leu231_Ser411 Unknown - pathogenic (dominant) g.1391996_1460043dup g.1456616_1524663dup - - ATAD3A_000043 - PubMed: Gunning 2020, Journal: Wortmann 2020 - - De novo - - - 0 - DNA PCR, SEQ, SEQ-NG - - ? Pat5 PubMed: Gunning 2020, Journal: Wortmann 2020 - M - - - 28d 0 - - 1 Johan den Dunnen
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