Variant #0000638707 (NC_000001.10:g.1416370_1454423del, ATAD3A(NM_018188.3):c.-126_658+54[0])

Individual ID 00281815
Chromosome 1
Allele Paternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.1416370_1454423del
DNA change (hg38) g.1480990_1519043del
Published as -
ISCN -
DB-ID ATAD3A_000045 See all 3 reported entries
Variant remarks -
Reference PubMed: Desai 2017, Journal: Desai 2017
ClinVar ID -
dbSNP ID -
Origin Germline
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ATAD3A NM_018188.3 +/. - c.-126_658+54[0] r.[NM_031921.4:-101_514]::659_*615 p.[NP_060658.3:Met1_Ala172]::Thr221_Ser634
ATAD3B NM_031921.4 +/. - c.514+53_*385[0] r.-101_514::[NM_018188.3:659_*615] p.Met1_Ala172::[NP_114127.3:Thr221_Ser634]



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000282961 DNA arrayCGH;PCR;SEQ - - ATAD3A, ATAD3B 2 Johan den Dunnen