Individual #00183261

ID_report -Pat1
Reference Burrage ASHG2018 P277, Journal: Burrage 2019
Remarks -
Gender F
Consanguinity -
Country -
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases SPONASTRIME
Owner name Johan den Dunnen


Phenotypes

dysplasia, SPONASTRIME type (SPONASTRIME)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000143991 SPONASTRIME dysplasia - see paper; ... Familial, autosomal recessive 07y09m - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000184218 DNA SEQ;SEQ-NG - - TONSL 2 Johan den Dunnen



Variants

2 entries on 1 page. Showing entries 1 - 2.
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     
8 Parent #1 g.145660909G>A - - - TONSL_000037 - Burrage ASHG2018 P277, Journal: Burrage 2019 - rs755575416 Germline - - - 1 - Johan den Dunnen TONSL +/. - - - - - - NM_013432.4:c.2800C>T - pathogenic (recessive) r.(?) p.(Arg934Trp) - - - - - - - - - - - - - - - - - - - - - - -
8 Parent #2 g.145668178G>A - - - TONSL_000003 - Journal: Burrage 2019 - rs1026265047 Germline - - - 0 - Johan den Dunnen TONSL +/. - - - - - - NM_013432.4:c.460C>T - pathogenic (recessive) r.(?) p.(Gln154*) - - - - - - - - - - - - - - - - - - - - - - -
Legend