Variant #0000346215 (NC_000001.10:g.1471146C>T, ATAD3A(NM_018188.3):c.*1694C>T)

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.1471146C>T
DNA change (hg38) g.1535766C>T
Published as -
ISCN -
DB-ID TMEM240_000006
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) Variant not found in online data sets
Owner VKGL-NL_Nijmegen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TMEM240 NM_001114748.1 ?/. - c.196G>A r.(?) p.(Gly66Arg)
ATAD3A NM_018188.3 ?/. - c.*1694C>T r.(=) p.(=)