Variant #0000502941 (NC_000001.10:g.1447735C>A, ATAD3A(NM_018188.3):c.87C>A)

Chromosome 1
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.1447735C>A
DNA change (hg38) g.1512355C>A
Published as ATAD3A(NM_018188.4):c.87C>A (p.A29=)
ISCN -
DB-ID ATAD3A_000011
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.87C>A r.(?) p.(Ala29=)
ATAD3B NM_031921.4 -?/. - c.*16538C>A r.(=) p.(=)