Variant #0000471337 (NC_000023.10:g.47060300T>C, UBA1(NM_003334.3):c.488T>C)

Individual ID 00228899
Chromosome X
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.47060300T>C
DNA change (hg38) g.47200901T>C
Published as -
ISCN -
DB-ID UBA1_000050
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Gerarda Cappuccio
Database submission license No license selected
Created by Gerarda Cappuccio
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
UBA1 NM_003334.3 -?/. 6 c.488T>C c.(488u>c) p.(Val163Ala)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000229990 DNA arraySEQ - - MCM2, TMEM135, TRAK2, UBA1 4 Gerarda Cappuccio