Individual #00225450

ID_report -Pat2
Reference Journal: Chang 2019
Remarks 2-generation family, 1 affected, unaffected heterozygous carrier parents
Gender M
Consanguinity -
Country Korea, South (Republic)
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     
0000170565 SPONASTRIME dysplasia - see paper; … Familial, autosomal recessive 2m - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000226529 DNA SEQ;SEQ-NG - trio WES TONSL 3 Johan den Dunnen



Variants

3 entries on 1 page. Showing entries 1 - 3.
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 #2 g.145660489C>T - - - TONSL_000020 - Journal: Chang 2019 - - Germline - - - 0 - Johan den Dunnen TONSL +/. - - - - - - NM_013432.4:c.2917G>A - pathogenic (recessive) r.(?) p.(Gly973Arg) - - - - - - - - - - - - - - - - - - - - - - -
8 Parent #1 g.145664068G>A - - - TONSL_000019 - Journal: Chang 2019 - - Germline - - - 0 - Johan den Dunnen TONSL +/. - - - - - - NM_013432.4:c.1531C>T - pathogenic (recessive) r.(?) p.(Gln511*) - - - - - - - - - - - - - - - - - - - - - - -
X Maternal (confirmed) g.34148043C>T - - - FAM47A_000001 - Journal: Reynhout 2019 - - Germline - - - 0 - Johan den Dunnen FAM47A ?/. - - - - - - NM_203408.3:c.2353G>A - VUS r.(?) p.(Val785Ile) - - - - - - - - - - - - - - - - - - - - - - -
Legend