Variant #0000856606 (NC_000023.10:g.41200811_41200813del, NM_001356.3:c.226_228del (DDX3X))

Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.41200811_41200813del
DNA change (hg38) -
Published as DDX3X(NM_001193416.3):c.226_228delAGT (p.S76del)
ISCN -
DB-ID DDX3X_000011
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) Retrieve
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
Date created 2022-05-09 15:47:41 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DDX3X NM_001356.3 ?/. - c.226_228del r.(?) p.(Ser76del)


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