Individual #00310225

ID_report -
Reference -
Remarks -
Gender -
Consanguinity -
Country -
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases PBD
Owner name Nancy Braverman
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     
0000235529 see paper; ... rhizomelic chondrodysplasia punctata - Familial, autosomal recessive - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000311374 DNA SEQ - - PEX7 2 Nancy Braverman



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     

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     
6 Parent #2 +/. - pathogenic (recessive) g.137167220del g.136846082del 426delA - PEX7_000014 - - - - Germline - - - 0 - Nancy Braverman PEX7 - - - - - 5 NM_000288.3:c.427del - r.(?) p.(Thr143Leufs*38) - - - - - - - - - - - - - - - - - - -
6 Parent #1 +/. - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - - - - Germline - - - 0 - Nancy Braverman PEX7 - - - - - 9 NM_000288.3:c.875T>A - r.(?) p.(Leu292*) - - - - - - - - - - - - - - - - - - -
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