Variant #0000881124 (NC_000023.10:g.41203558C>T, NM_001356.3:c.931C>T (DDX3X))

Individual ID 00419461
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.41203558C>T
DNA change (hg38) g.41344305C>T
Published as NM_001193417.2:c.883C>T (Arg295Ter)
ISCN -
DB-ID DDX3X_000057 See all 3 reported entries
Variant remarks ACMG PVS1, PM1, PM2, PP3
Reference PubMed: Marinakis 2021
ClinVar ID RCV001260602.1
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Jan Traeger-Synodinos
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2022-10-20 16:24:48 +02:00 (CEST)
Date last edited 2022-10-20 16:26:51 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DDX3X NM_001356.3 +/. - c.931C>T r.(?) p.(Arg311*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000420765 DNA SEQ;SEQ-NG - WES - 1 Jan Traeger-Synodinos


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