Variant #0000682451 (NC_000023.10:g.47045676C>T, UBA1(NM_003334.3):c.-7748C>T)

Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.47045676C>T
DNA change (hg38) -
Published as RBM10(NM_001204468.1):c.2752C>T (p.R918W)
ISCN -
DB-ID UBA1_000064
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) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
UBA1 NM_003334.3 ?/. - c.-7748C>T r.(?) p.(=)
RBM10 NM_005676.4 ?/. - c.2557C>T r.(?) p.(Arg853Trp)