Variant #0000728927 (NC_000023.10:g.47045777G>A, UBA1(NM_003334.3):c.-7647G>A)

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.47045777G>A
DNA change (hg38) -
Published as RBM10(NM_001204468.1):c.2853G>A (p.T951=)
ISCN -
DB-ID UBA1_000071
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
UBA1 NM_003334.3 -?/. - c.-7647G>A r.(?) p.(=)
RBM10 NM_005676.4 -?/. - c.2658G>A r.(?) p.(Thr886=)