Individual #00334486

ID_report -
Reference PubMed: Luo 2021, Journal: Luo 2021
Remarks analysis 233 patients
Gender -
Consanguinity -
Country China
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases IMD74
Owner name Liu Wenbing
Database submission license No license selected
Created by Liu Wenbing
Date created 2021-03-01 04:54:02 +01:00 (CET)
Date last edited 2022-05-26 13:15:21 +02:00 (CEST)


Phenotypes

immunodeficiency, type 74, COVID19-related, X-linked (IMD74)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Owner     
0000253199 COVID-19 - hospitalized after COVID-19 infection, Unknown - - - - Liu Wenbing



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000335715 DNA SEQ-NG PBMC WES - 6 Liu Wenbing



Variants

6 entries on 1 page. Showing entries 1 - 6.
Legend   How to query  

Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

Function/GVS     

Predict/AGVGD     

Predict/MutationTaster     

Predict/SIFT     

Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
2 Unknown +?/. - VUS g.48033981_48033982insTTGA - - - MSH6_010310 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - Liu Wenbing MSH6 - - - - - NM_000179.2:c.4065_4066insTTGA - r.(?) p.(Lys1358Aspfs*2) - - - - - - - - - - - - - -
2 Unknown +?/. - VUS g.204801556T>C - - - ICOS_000008 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - Liu Wenbing ICOS - - - - - NM_012092.3:c.19T>C - r.(?) p.(Tyr7His) - - - - - - - - - - - - - -
7 Unknown +?/. - VUS g.128582310G>A - - - IRF5_000005 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - Liu Wenbing IRF5 - - - - - NM_001098629.1:c.175G>A - r.(?) p.(Gly59Arg) - - - - - - - - - - - - - -
14 Unknown +?/. - VUS g.50121507G>C - - - POLE2_000007 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - Liu Wenbing POLE2 - - - - - NM_002692.3:c.1068C>G - r.(?) p.(His356Gln) - - - - - - - - - - - - - -
17 Unknown +?/. - VUS g.26857841C>T - - - FOXN1_000025 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - Liu Wenbing FOXN1 - - - - - NM_003593.2:c.905C>T - r.(?) p.(Thr302Met) - - - - - - - - - - - - - -
22 Unknown +?/. - VUS g.19753444G>A - - - TBX1_000009 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - Liu Wenbing TBX1 - - - - - NM_080647.1:c.928G>A - r.(?) p.(Gly310Ser) - - - - - - - - - - - - - -
Legend   How to query  


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