Variant #0000716775 (NC_000001.10:g.1471103G>A, ATAD3A(NM_018188.3):c.*1651G>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.1471103G>A
DNA change (hg38) -
Published as TMEM240(NM_001114748.1):c.239C>T (p.T80M)
ISCN -
DB-ID ATAD3A_000039 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 -
Methylation -
Average frequency (gnomAD v.2.1.1) 4.0E-5 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TMEM240 NM_001114748.1 ?/. - c.239C>T r.(?) p.(Thr80Met)
ATAD3A NM_018188.3 ?/. - c.*1651G>A r.(=) p.(=)