Individual #00225454

ID_report -Pat6
Reference Journal: Chang 2019
Remarks 2-generation family, 1 affected, unaffected heterozygous carrier parents
Gender F
Consanguinity -
Country Finland
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     
0000170569 SPONASTRIME dysplasia - see paper; … Familial, autosomal recessive 1d - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000226533 DNA SEQ;SEQ-NG - trio WES TONSL 3 Johan den Dunnen



Variants

3 entries on 1 page. Showing entries 1 - 3.
Legend  

Chr     

Allele     

Effect     

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     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

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     

Protein level     
8 Maternal (confirmed) +/. g.145668059C>A - - - TONSL_000026 no variant 2nd allele Journal: Chang 2019 - - Germline - - - 0 - Johan den Dunnen TONSL - - - - - - NM_013432.4:c.578+1G>T - pathogenic (recessive) r.spl p.? - - - - - - - - - - - - - - - - - - -
19 Parent #2 ?/. g.47259048C>G - - - FKRP_000016 - Journal: Reynhout 2019 - - Germline - - - 0 - Johan den Dunnen FKRP - - - - - - NM_024301.4:c.341C>G - VUS r.(?) p.(Ala114Gly) - - - - - - - - - - - - - - - - - - -
19 Parent #1 ?/. g.47259734G>C - - - FKRP_000193 - Journal: Reynhout 2019 - - Germline - - - 0 - Johan den Dunnen FKRP - - - - - - NM_024301.4:c.1027G>C - VUS r.(?) p.(Glu343Gln) - - - - - - - - - - - - - - - - - - -
Legend