Variant #0000638700 (NC_000001.10:g.1391996_1460043dup, ATAD3A(NM_018188.3):c.-126_1358+266[2])

Individual ID 00281806
Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.1391996_1460043dup
DNA change (hg38) g.1456616_1524663dup
Published as -
ISCN -
DB-ID ATAD3A_000043 See all 4 reported entries
Variant remarks -
Reference PubMed: Gunning 2020, Journal: Wortmann 2020
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ATAD3C NM_001039211.2 +/. - c.689+267_*1628[2] r.[NM_018188.3:-126_1358]::690_*1628 p.[NP_001034300.2:Met1_Gly453]::Leu231_Ser411
ATAD3A NM_018188.3 +/. - c.-126_1358+266[2] r.-126_1358::[NM_001039211.2:690_*1628] p.Met1_Gly453::[NP_060658.3:Leu231_Ser411]
ATAD3B NM_031921.4 ?/. - c.-101_*385[2] r.= p.=



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000282952 DNA PCR;SEQ;SEQ-NG - WES ATAD3A, ATAD3B, ATAD3C 1 Johan den Dunnen