Individual #00310099

ID_report patient
Reference PubMed: Konkolova 2015
Remarks 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives
Gender M
Consanguinity -
Country Slovakia (Slovak Republic)
Population white
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases PBD
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

peroxisome biogenesis disorder (Zellweger syndrome) (PBD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000235410 see paper; ... Zellweger syndrome - Familial, autosomal recessive - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000311247 DNA SEQ - - PEX12 5 Johan den Dunnen



Variants

5 entries on 1 page. Showing entries 1 - 5.
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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     

DNA/Legacy     

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     
6 Both (homozygous) -/. - benign g.42946490C>A - - - PEX6_000146 - PubMed: Konkolova 2015 - - Germline - - - 0 - Johan den Dunnen PEX6 - - - - - - NM_000287.3:c.399G>T - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
6 Parent #1 -/. - benign g.42946559G>C - - - PEX6_000234 - PubMed: Konkolova 2015 - - Germline - - - 0 - Johan den Dunnen PEX6 - - - - - - NM_000287.3:c.330C>G - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
8 Both (homozygous) -/. - benign g.77895865A>G - - - PEX2_000024 - PubMed: Konkolova 2015 - rs10087163 Germline - - - 0 - Johan den Dunnen PEX2 - - - - - - NM_000318.2:c.550T>C - r.(?) p.(Cys184Arg) - - - - - - - - - - - - - - - - - - - -
17 Maternal (confirmed) +/. - pathogenic (recessive) g.33902992_33902993del - 887_888delTC - PEX12_000008 - PubMed: Konkolova 2015 - - Germline - - - 0 - Johan den Dunnen PEX12 - - - - - - NM_000286.2:c.888_889del - r.(?) p.(Leu297Thrfs*12) - - - - - - - - - - - - - - - - - - - -
17 Paternal (confirmed) +/. - pathogenic (recessive) g.33903115_33903116dup - 767_768dupAT - PEX12_000035 - PubMed: Konkolova 2015 - - Germline - - - 0 - Johan den Dunnen PEX12 - - - - - - NM_000286.2:c.765_766dup - r.(?) p.(Phe256Tyrfs*22) - - - - - - - - - - - - - - - - - - - -
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