Variant #0000333896 (NC_000023.10:g.47065473C>G, UBA1(NM_003334.3):c.1702C>G)

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.47065473C>G
DNA change (hg38) g.47206074C>G
Published as UBA1(NM_003334.3):c.1702C>G (p.(Leu568Val)), UBA1(NM_003334.4):c.1702C>G (p.L568V)
ISCN -
DB-ID UBA1_000037 See all 4 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) 0.00771 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
UBA1 NM_003334.3 -?/. - c.1702C>G r.(?) p.(Leu568Val)