Individual #00225709

ID_report 25558065-Fam11DG0417
Reference PubMed: Alazami 2015, Journal: Alazami 2015
Remarks 4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives
Gender F;M
Consanguinity yes
Country Saudi Arabia
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 3
Diseases ?
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

unclassified / mixed (?)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Tumor/MSI     

Diagnosis/Criteria     

Owner     
0000170815 neurogenetic disorder - see paper; …, global developmental delay, light complexion, early onset focal segmental glomerulosclerosis Familial, autosomal recessive - - - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000226776 DNA SEQ;SEQ-NG - WES NUP107 1 Johan den Dunnen



Variants

1 entry on 1 page. Showing entry 1.
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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     

Codon change     

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/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
12 Both (homozygous) +?/. - likely pathogenic (recessive) g.69084526G>A g.68690746G>A - - NUP107_000004 - PubMed: Alazami 2015, Journal: Alazami 2015 - - Germline yes - - 0 - Johan den Dunnen NUP107 - - - - - - NM_020401.2:c.303G>A - r.(?) p.(Met101Ile) - - - - - - - - - - - - - - - - - - -
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