Variant #0000320443 (NC_000001.10:g.1469324G>A, ATAD3A(NM_018188.3):c.1777G>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.1469324G>A
DNA change (hg38) g.1533944G>A
Published as ATAD3A(NM_001170535.1):c.1633G>A (p.(Glu545Lys)), ATAD3A(NM_018188.4):c.1777G>A (p.E593K)
ISCN -
DB-ID ATAD3A_000007 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00043 View details
Owner VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TMEM240 NM_001114748.1 ?/. - c.*1415C>T r.(=) p.(=)
ATAD3A NM_018188.3 ?/. - c.1777G>A r.(?) p.(Glu593Lys)