Individual #00065173

ID_report 26849110-Fam2PatII3
Reference PubMed: Divisato 2016, Journal: Divisato 2016
Remarks -
Gender F
Consanguinity no
Country Italy
Population Italian
Age/Death >26y (later than 26 years)
VIP 0
Data_av -
Treatment -
Panel ID 00065172
Panel size 1
Diseases PDB
Owner name Jamie Zeegers


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     
0000079425 no Giant Cell Tumor (-HP:0011847), no coronary heart disease (-HP:0004929) - - Familial, autosomal dominant - 26y PDB - Jamie Zeegers



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000065326 DNA IHC;PCRq;SEQ;SEQ-NG-I;SEQ-NG-R;Western - - ZNF687 1 Jamie Zeegers



Variants

1 entry on 1 page. Showing entry 1.
Legend  

Chr     

Allele     

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     

Effect     

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     

Protein/Legacy     

CodonNr     

Method     

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/Stain     

Protein level     
1 Maternal (inferred) g.151262329C>G g.151289853C>G - - ZNF687_000001 - PubMed: Divisato 2016, Journal: Divisato 2016 - - Germline - - - 0 - Jamie Zeegers ZNF687 +/. - - - - - 6 NM_020832.1:c.2810C>G - - r.(?) p.(Pro937Arg) - - - - - - - - - - - - - - - - - - - - - - -
Legend