Variant #0000987864 (NC_000023.10:g.41198307_41198309del, NM_001356.3:c.122_124del (DDX3X))

Individual ID 00451681
Chromosome X
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.41198307_41198309del
DNA change (hg38) g.41339054_41339056del
Published as -
ISCN -
DB-ID DDX3X_000146
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Marketa Wayhelova
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Marketa Wayhelova
Date created 2024-06-28 12:23:14 +02:00 (CEST)
Date last edited 2024-12-03 22:23:15 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DDX3X NM_001356.3 +?/. 3 c.122_124del r.(?) p.(Pro41del)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000453285 DNA SEQ-NG-I peripheral blood CES - 1 Marketa Wayhelova


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