Variant #0000169027 (NC_000001.10:g.1464679C>T, ATAD3A(NM_018188.3):c.1726C>T)

Individual ID 00103889
Chromosome 1
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.1464679C>T
DNA change (hg38) g.1529299C>T
Published as NM_001170535:c.1582C>T (R528W)
ISCN -
DB-ID ATAD3A_000001
Variant remarks -
Reference PubMed: Eldomery 2017, Journal: Eldomery 2017
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     
ATAD3A NM_018188.3 +/. 15 c.1726C>T r.(?) p.(Arg576Trp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000104347 DNA SEQ;SEQ-NG - - ATAD3A 1 Johan den Dunnen