Variant #0000268664 (NC_000023.10:g.41203347_41203348del, DDX3X(NM_001356.3):c.830_831del)

Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.41203347_41203348del
DNA change (hg38) g.41344094_41344095del
Published as DDX3X(NM_001356.4):c.830_831delAG (p.E277Vfs*17)
ISCN -
DB-ID DDX3X_000015
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_VUmc
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_VUmc
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DDX3X NM_001356.3 +/. - c.830_831del r.(?) p.(Glu277ValfsTer17)