Individual #00240072

ID_report -
Reference -
Remarks -
Gender M
Consanguinity no
Country -
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases LIG4 syndrome
Owner name Jennie Murray
Database submission license No license selected
Created by Jennie Murray


Phenotypes

LIG4 syndrome (LIG4 syndrome)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

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Protein     

Owner     
0000180234 Microcephalic Primordial Dwarfism, Severe combined immunodeficiency - - Familial, autosomal recessive - - - - - Jennie Murray



Screenings


AscendingScreening ID     

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Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000241176 DNA SEQ - - LIG4 2 Jennie Murray



Variants

2 entries on 1 page. Showing entries 1 - 2.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

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Exon     

DNA change (cDNA)     

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Exon_old     

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Type/DNA     

CpG     

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mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
13 Paternal (confirmed) +/? - pathogenic g.108861714del g.108209366del - - LIG4_000002 - PubMed: IJspeert 2013 - - Germline - - - - - Jennie Murray LIG4 - - - - 2 NM_002312.3:c.1904del - r.(?) p.(Lys635Argfs*10) - - - - - - - - - - - - - -
13 Maternal (confirmed) +/? - pathogenic g.108863007del g.108210659del - - LIG4_000001 - PubMed: IJspeert 2013 - - Germline - - - - - Jennie Murray LIG4 - - - - 2 NM_002312.3:c.613del - r.(?) p.(Ser205Leufs*29) - - - - - - - - - - - - - -
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