Variant #0000733985 (NC_000023.10:g.41200743A>G, DDX3X(NM_001356.3):c.158A>G)

Individual ID 00334300
Chromosome X
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.41200743A>G
DNA change (hg38) -
Published as -
ISCN -
DB-ID DDX3X_000117 See all 2 reported entries
Variant remarks -
Reference PubMed: Luo 2021, Journal: Luo 2021
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Liu Wenbing
Database submission license No license selected
Created by Liu Wenbing
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DDX3X NM_001356.3 ?/. - c.158A>G r.(?) p.(Tyr53Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000335527 DNA SEQ-NG PBMC WES - 1 Liu Wenbing