Variant #0000576099 (NC_000023.10:g.47058637G>A, UBA1(NM_003334.3):c.206G>A)

Chromosome X
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.47058637G>A
DNA change (hg38) g.47199238G>A
Published as UBA1(NM_003334.4):c.206G>A (p.R69Q)
ISCN -
DB-ID UBA1_000051
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) 0.0006 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     
UBA1 NM_003334.3 -?/. - c.206G>A r.(?) p.(Arg69Gln)