Individual #00225455

ID_report -Pat7
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     
0000170570 SPONASTRIME dysplasia - see paper; … Familial, autosomal recessive 36y - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000226534 DNA SEQ;SEQ-NG - singleton WES TONSL 6 Johan den Dunnen



Variants

6 entries on 1 page. Showing entries 1 - 6.
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     
6 Parent #2 g.168294583G>A - - - MLLT4_000003 - Journal: Reynhout 2019 - - Germline - - - 0 - Johan den Dunnen MLLT4 ?/. - - - - - - NM_001040000.2:c.1219G>A - VUS r.(?) p.(Glu407Lys) - - - - - - - - - - - - - - - - - - - - - - -
6 Parent #1 g.168349078C>G - - - MLLT4_000004 - Journal: Reynhout 2019 - - Germline - - - 0 - Johan den Dunnen MLLT4 ?/. - - - - - - NM_001040000.2:c.3730C>G - VUS r.(?) p.(Pro1244Ala) - - - - - - - - - - - - - - - - - - - - - - -
8 Parent #2 g.145655868C>G - - - TONSL_000028 - Journal: Chang 2019 - - Germline - - - 0 - Johan den Dunnen TONSL +/. - - - - - - NM_013432.4:c.3862G>C - pathogenic (recessive) r.(?) p.(Glu1288Gln) - - - - - - - - - - - - - - - - - - - - - - -
8 Parent #1 g.145660499G>T - - - TONSL_000027 - Journal: Chang 2019 - - Germline - - - 0 - Johan den Dunnen TONSL +/. - - - - - - NM_013432.4:c.2907C>A - pathogenic (recessive) r.(?) p.(Tyr969*) - - - - - - - - - - - - - - - - - - - - - - -
9 Both (homozygous) g.136029611C>T - - - GBGT1_000001 - Journal: Reynhout 2019 - - Germline - - - 0 - Johan den Dunnen GBGT1 ?/. - - - - - - NM_021996.4:c.397G>A - VUS r.(?) p.(Glu133Lys) - - - - - - - - - - - - - - - - - - - - - - -
X Both (homozygous) g.152018953C>G - - - NSDHL_000014 - Journal: Reynhout 2019 - - Germline - - - 0 - Johan den Dunnen NSDHL ?/. - - - - - - NM_015922.2:c.253C>G - VUS r.(?) p.(Leu85Val) - - - - - - - - - - - - - - - - - - - - - - -
Legend