Variant #0000699255 (NC_000023.10:g.47058451T>C, UBA1(NM_003334.3):c.122T>C)

Individual ID 00315890
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (!)
DNA change (genomic) (Relative to hg19 / GRCh37) g.47058451T>C
DNA change (hg38) g.47199052T>C
Published as -
ISCN -
DB-ID UBA1_000070 See all 18 reported entries
Variant remarks somatic mosaicism
Reference PubMed: Beck 2020
ClinVar ID -
dbSNP ID -
Origin Somatic
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
UBA1 NM_003334.3 +/. 3 c.122T>C r.(?) p.(Met41Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000317070 DNA SEQ;SEQ-NG - - UBA1 1 Johan den Dunnen