Individual #00107721

ID_report -
Reference PubMed: Tacconi 1998
Remarks -
Gender -
Consanguinity -
Country Senegal
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases ?
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

unclassified / mixed (?)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Tumor/MSI     

Diagnosis/Criteria     

Owner     
0000085486 - - - Unknown - - - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000108192 DNA SEQ - - SOST 2 Johan den Dunnen



Variants

2 entries on 1 page. Showing entries 1 - 2.
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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 Parent #1 -/. - benign g.41833198T>G g.43755830T>G - - SOST_000003 linkage; not in 720 control chromosomes PubMed: Brunkow 2001 - - Germline - - - 0 - Johan den Dunnen SOST - - - - - 1i NM_025237.2:c.221-67A>C - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
17 Parent #1 +/. - pathogenic g.41835887T>A g.43758519T>A - - SOST_000002 linkage; not in 720 control chromosomes PubMed: Brunkow 2001, OMIM:var00002 - - Germline - - - 0 - Johan den Dunnen SOST - - - - - 1i NM_025237.2:c.220+3A>T - r.spl p.(Asp74Glyfs*) - - - - - - - - - - - - - - - - - - -
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