Individual #00225459

ID_report -Pat11
Reference Journal: Chang 2019
Remarks 2-generation family, 1 affected, unaffected heterozygous carrier parents
Gender F
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     
0000170574 SPONASTRIME dysplasia - see paper; … Familial, autosomal recessive 3y5m - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000226538 DNA;RNA RT-PCR;SEQ - - TONSL 2 Johan den Dunnen



Variants

2 entries on 1 page. Showing entries 1 - 2.
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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.145665604_145665607del - 1291-11_1291-14delCCTC - TONSL_000035 - Journal: Chang 2019 - - Germline - - - 0 - Johan den Dunnen TONSL - - - - - 10i NM_013432.4:c.1291-14_1291-11del - pathogenic (recessive) r.[1291_1323del,1290_1291ins[1291-37_1291-15;ugcuccucag]] p.? - - - - - - - - - - - - - - - - - - -
8 Paternal (confirmed) +/. g.145668059C>T - - - TONSL_000034 - Journal: Chang 2019 - - Germline - - - 0 - Johan den Dunnen TONSL - - - - - - NM_013432.4:c.578+1G>A - pathogenic (recessive) r.449_578del p.Thr151Argfs*42 - - - - - - - - - - - - - - - - - - -
Legend