Individual #00107727

ID_report 11836356-Pat2
Reference PubMed: Balemans 2002
Remarks 2-generation family, affected sister/brother, Pat2
Gender F
Consanguinity yes
Country Netherlands
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 2
Diseases VBCH
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

disease, van Buchem (VBCH, hyperostosis corticalis generalisata) (VBCH)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000085492 van Buchem disease (hyperostosis corticalis generalisata) - - Isolated (sporadic) - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000108198 DNA Southern;PCR;SEQ - - SOST 1 Johan den Dunnen



Variants

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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     
17 Both (homozygous) +/. - pathogenic g.41744731_41796448del g.43667363_43719080del - - SOST_000007 51.7Kb deletion; shared haplotype PubMed: Balemans 2002 - - Germline yes - - 0 - Johan den Dunnen SOST - - - - - 2_ NM_025237.2:c.*36262_*87979del - r.(0) p.(0) - - - - - - - - - - - - - - - - - - -
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