Individual #00092241

ID_report -
Reference PubMed: Tarailo-Graovac 2016, Journal: Tarailo-Graovac 2016
Remarks 2-generation family, 1 affected, unaffected heterozygous carrier parents
Gender M
Consanguinity -
Country United States
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases RALD
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

RAS-associated autoimmune leukoproliferative disorder (RALD, utoimmune lymphoproliferative syndrome type IV (ALPS-4)) (RALD;ALPS4)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

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Age/Examination     

Age/Diagnosis     

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Protein     

Owner     
0000070574 mild IDD, Rosai-Dorfmansyndrome,chronic adrenal suppression, restrictive lung disease, chronic pain and depression, peribronchopulmonary dysplasia - - Familial, autosomal dominant - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

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Variants found     

Owner     
0000092382 DNA SEQ;SEQ-NG - - KRAS 1 Johan den Dunnen



Variants

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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

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Owner     

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Codon change     

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Exon     

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Haplotype     

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Protein     

P-domain     

Exon_old     

Function/GVS     

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Predict/Grantham     

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Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

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Legacy protein change     

Protein level     
12 Unknown +/. - pathogenic g.25398282C>A g.25245348C>A - - KRAS_000008 - PubMed: Tarailo-Graovac 2016, Journal: Tarailo-Graovac 2016 - - Somatic - - - 0 - Johan den Dunnen KRAS - - - - - - NM_004985.3:c.37G>T - r.(?) p.(Gly13Cys) - - - - - - - - - - - - - - - - - - -
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