Individual #00057227

ID_report -
Reference -
Remarks -
Gender M
Consanguinity yes
Country Libya
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases Autoimmune lymphoproliferative syndrome
Owner name Imen Ben-Mustapha


Phenotypes

Autoimmune lymphoproliferative syndrome (-)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000044578 Lymphadenopathy, hepatosplenomegaly, skin rash - - Familial, autosomal recessive - - - - - Imen Ben-Mustapha



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000057191 DNA;RNA PCR;RT-PCR;SEQ - - FAS 1 Imen Ben-Mustapha



Variants

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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

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Reference     

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IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

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Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

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Predict/Splice     

Protein level     
10 Unknown +/. g.90770494A>G g.89010737A>G g.25207A>G - FAS_000002 - - - - Germline yes - - 0 - Imen Ben-Mustapha FAS - - - - - 5i NM_000043.4:c.506-16A>G - - r.506_568del p.Gly169_Trp189del - - - - - - - - - - - - - - - - - - -
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