Variant #0000638709 (NC_000001.10:g.1414743_1453409del, ATAD3A(NM_018188.3):c.-126_588+254[0])

Individual ID 00281813
Chromosome 1
Allele Both (homozygous)
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.1414743_1453409del
DNA change (hg38) g.1479363_1518029del
Published as -
ISCN -
DB-ID ATAD3A_000046
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_588+254[0] r.[NM_031921.4:-101_444]::589_*615 p.[NP_060658.3:Met1_Gln148]::Gln197_Ser634
ATAD3B NM_031921.4 +/. - c.444+255_*385[0] r.-101_444::[NM_018188.3:589_*615] p.Met1_Gln148::[NP_114127.3:Gln197_Ser634]



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000282959 DNA arrayCGH;PCR;SEQ - - ATAD3A, ATAD3B 1 Johan den Dunnen