Individual #00065168

ID_report 26849110-Fam1PatV4
Reference PubMed: Divisato 2016, Journal: Divisato 2016
Remarks 5-generation family, 14-affecteds (9F, 5M)
Gender M
Consanguinity no
Country Italy
Population Italian
Age/Death >35y (later than 35 years)
VIP 0
Data_av -
Treatment -
Panel size 14
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     
0000079421 Giant Cell Tumor (HP:0011847), coronary heart disease (HP:0004929) - - Familial, autosomal dominant 35y - - - Jamie Zeegers



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000065321 DNA IHC;PCRq;SEQ;SEQ-NG-I;SEQ-NG-R;Western - - ZNF687 5 Jamie Zeegers



Variants

5 entries on 1 page. Showing entries 1 - 5.
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 (confirmed) g.149878407G>A g.149906855G>A - - SV2A_000001 ancestral haplotype PubMed: Divisato 2016, Journal: Divisato 2016 - rs149735232 Germline - - - 0 - Johan den Dunnen SV2A -?/. - - - - - 11 NM_014849.4:c.1680C>T - - r.(=) p.(Asp560=) - - - - - - - - - - - - - - - - - - - - - - -
1 Maternal (confirmed) g.150933514A>T g.150961038A>T - - SETDB1_000001 ancestral haplotype PubMed: Divisato 2016, Journal: Divisato 2016 - rs138864506 Germline - - - 0 - Johan den Dunnen SETDB1 -?/. - - - - - 16 NM_001145415.1:c.2976A>T - - r.(?) p.(Glu992Asp) - - - - - - - - - - - - - - - - - - - - - - -
1 Maternal (confirmed) g.151260360C>A g.151287884C>A - - ZNF687_000003 ancestral haplotype PubMed: Divisato 2016, Journal: Divisato 2016 - rs142842127 Germline - - - 0 - Johan den Dunnen ZNF687 -?/. - - - - - - NM_020832.1:c.1593C>A - - r.(=) p.(Thr531=) - - - - - - - - - - - - - - - - - - - - - - -
1 Maternal (inferred) g.151262329C>G g.151289853C>G - - ZNF687_000001 not in 1128 control chromosomes PubMed: Divisato 2016, Journal: Divisato 2016 - - Germline yes - - 0 - Jamie Zeegers ZNF687 +/. - - - - - 6 NM_020832.1:c.2810C>G - - r.(?) p.(Pro937Arg) - - - - - - - - - - - - - - - - - - - - - - -
1 Maternal (confirmed) g.152185675_152185676del g.152213199_152213200del 152185676delTA - HRNR_000001 ancestral haplotype PubMed: Divisato 2016, Journal: Divisato 2016 - - Germline - - - 0 - Johan den Dunnen HRNR ?/. - - - - - 3 NM_001009931.2:c.8429_8430del - - r.(?) p.(Tyr2810Phefs*8) - - - - - - - - - - - - - - - - - - - - - - -
Legend