Individual #00101200

ID_report 26849110-Fam3PatII1
Reference PubMed: Divisato 2016, Journal: Divisato 2016
Remarks 2-generation family, 4 affecteds (3F, M)
Gender M
Consanguinity no
Country Italy
Population Italian
Age/Death >50y (later than 50 years)
VIP 0
Data_av -
Treatment -
Panel size 3
Diseases PDB
Owner name Johan den Dunnen


Phenotypes

Paget disease of bone (PDB) (PDB)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000079438 no Giant Cell Tumor (-HP:0011847), coronary heart disease (HP:0004929) - - Familial, autosomal dominant - 50y PDB - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000101623 DNA SEQ;SEQ-NG-I - - ZNF687 1 Johan den Dunnen



Variants

1 entry on 1 page. Showing entry 1.
Legend  

Chr     

Allele     

Effect     

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     

ClassClinical     

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     

Protein level     
1 Maternal (inferred) +/. g.151259492G>T g.151287016G>T - - ZNF687_000002 - PubMed: Divisato 2016, Journal: Divisato 2016 - - Germline yes - - 0 - Johan den Dunnen ZNF687 - - - - - 2 NM_020832.1:c.725G>T - - r.(?) p.(Ser242Ile) - - - - - - - - - - - - - - - - - - -
Legend