Variant #0000638712 (NC_000001.10:g.(1383089_?)_(?_1447325)del, ATAD3A(NM_018188.3):c.?)

Individual ID 00281816
Chromosome 1
Allele Parent #1
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.(1383089_?)_(?_1447325)del
DNA change (hg38) g.(1447709_?)_(?_1511945)del
Published as -
ISCN -
DB-ID ATAD3A_000049
Variant remarks 43 to 61 kb deletion; the other allele has a deletion like in patients S2/S3 but probably also involving a partial gene conversion
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ATAD3C NM_001039211.2 +/. - c.? r.? p.?
ATAD3A NM_018188.3 +/. - c.? r.? p.?
ATAD3B NM_031921.4 +/. - c.? r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000282962 DNA arrayCGH;PCR;SEQ - - ATAD3A, ATAD3B 1 Johan den Dunnen