Variant #0000638711 (NC_000001.10:g.1413884_1452550del, ATAD3A(NM_018188.3):c.-126_286[0])

Individual ID 00281815
Chromosome 1
Allele Maternal (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.1413884_1452550del
DNA change (hg38) g.1478504_1517170del
Published as -
ISCN -
DB-ID ATAD3A_000048
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ATAD3A NM_018188.3 +/. - c.-126_286[0] r.[NM_031921.4:-101_282]::283_*615 p.[NP_060658.3:Met1_Lys94]::Met95_Ser634
ATAD3B NM_031921.4 +/. - c.283-140_*385[0] r.-101_282::[NM_018188.3:283_*615] p.Met1_Lys94::[NP_114127.3:Met95_Ser634]



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

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