Variant #0000503014 (NC_000001.10:g.1469394A>T, ATAD3A(NM_018188.3):c.1847A>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.1469394A>T
DNA change (hg38) g.1534014A>T
Published as ATAD3A(NM_018188.4):c.1847A>T (p.K616M)
ISCN -
DB-ID ATAD3A_000033
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) 0.00335 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TMEM240 NM_001114748.1 ?/. - c.*1345T>A r.(=) p.(=)
ATAD3A NM_018188.3 ?/. - c.1847A>T r.(?) p.(Lys616Met)