Individual #00310521

ID_report PatE14
Reference PubMed: Tamura 2001
Remarks -
Gender -
Consanguinity -
Country -
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases PBD
Owner name Nancy Braverman


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     
0000235818 see paper; ... Zellweger syndrome - Familial, autosomal recessive - - - - - Nancy Braverman



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000311673 DNA;RNA RT-PCR;SEQ - - PEX1 1 Nancy Braverman



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     

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     
7 Parent #1 +/. - pathogenic (recessive) g.92147048G>A g.92517734G>A - - PEX1_000043 - PubMed: Tamura 2001 - - Germline - - - 0 - Nancy Braverman PEX1 - - - - - 5 NM_000466.2:c.781C>T - r.781c>u p.Gln261* - - - - - - - - - - - - - - - - - - - -
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