Variant #0000348236 (NC_000001.10:g.1470752G>A, ATAD3A(NM_018188.3):c.*1300G>A)

Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.1470752G>A
DNA change (hg38) g.1535372G>A
Published as -
ISCN -
DB-ID TMEM240_000005 See all 3 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 (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TMEM240 NM_001114748.1 +/. - c.509C>T r.(?) p.(Pro170Leu)
ATAD3A NM_018188.3 +/. - c.*1300G>A r.(=) p.(=)