Variant #0000502940 (NC_000001.10:g.1447693C>T, ATAD3A(NM_018188.3):c.45C>T)

Chromosome 1
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.1447693C>T
DNA change (hg38) g.1512313C>T
Published as ATAD3A(NM_018188.4):c.45C>T (p.G15=)
ISCN -
DB-ID ATAD3A_000010
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) 0.00245 View details
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.45C>T r.(?) p.(Gly15=)
ATAD3B NM_031921.4 -/. - c.*16496C>T r.(=) p.(=)