Individual #00281808

ID_report Pat3
Reference PubMed: Gunning 2020, Journal: Wortmann 2020
Remarks -
Gender M
Consanguinity -
Country -
Population -
Age at death 5d
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases ?
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

unclassified / mixed (?)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Phenotype details     

Age/Onset     

Phenotype/Onset     

Protein     

Tumor/MSI     

Diagnosis/Criteria     

Owner     
0000216386 - - Isolated (sporadic) 00y00m05d - 5d-deceased; Apgars at birth 1; dilated cardiomyopathy, cardiomegaly, corneal opacity, postnatal hypotonia, encephalopathy, contractures; fetal hydrops; widespread hypoxic brain damage (postmortem) - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000282954 DNA PCR;SEQ;SEQ-NG - WES ATAD3A, ATAD3B, ATAD3C 1 Johan den Dunnen



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA 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     

Gene     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
1 Unknown +/. - pathogenic (dominant) g.1391996_1460043dup g.1456616_1524663dup - - ATAD3A_000043 - PubMed: Gunning 2020, Journal: Wortmann 2020 - - De novo - - - 0 - Johan den Dunnen ATAD3A, ATAD3B, ATAD3C - - - - - - NM_018188.3:c.-126_1358+266{2}, NM_031921.4:c.-101_*385{2}, NM_001039211.2:c.689+267_*1628{2} - r.-126_1358::NM_001039211.2:r.690_*1628, r.=, r.NM_018188.3:-126_1358::690_*1628 p.Met1_Gly453::NP_060658.3:p.Leu231_Ser411, p.=, NP_001034300.2:p.Met1_Gly453::p.Leu231_Ser411 - - - - - - - - - - - - - - - - - - - -
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