Variant #0000503015 (NC_000001.10:g.1470808G>A, ATAD3A(NM_018188.3):c.*1356G>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.1470808G>A
DNA change (hg38) g.1535428G>A
Published as TMEM240(NM_001114748.1):c.453C>T (p.A151=)
ISCN -
DB-ID ATAD3A_000034
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) 0.00424 View details
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TMEM240 NM_001114748.1 -?/. - c.453C>T r.(?) p.(Ala151=)
ATAD3A NM_018188.3 -?/. - c.*1356G>A r.(=) p.(=)