Variant #0000503001 (NC_000001.10:g.1458924G>A, ATAD3A(NM_018188.3):c.1084G>A)

Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.1458924G>A
DNA change (hg38) g.1523544G>A
Published as ATAD3A(NM_018188.4):c.1084G>A (p.A362T)
ISCN -
DB-ID ATAD3A_000024
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ATAD3A NM_018188.3 ?/. - c.1084G>A r.(?) p.(Ala362Thr)