Variant #0000064506 (NC_000023.10:g.47062534G>A, UBA1(NM_003334.3):c.1340G>A)

Individual ID 00037311
Chromosome X
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.47062534G>A
DNA change (hg38) g.47203135G>A
Published as -
ISCN -
DB-ID UBA1_000003 See all 5 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs2070169
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.19256 View details
Owner Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
UBA1 NM_003334.3 -/. - c.1340G>A r.(?) p.(Arg447His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000037381 DNA SEQ - - UBA1 1 Andreas Laner