Individual #00101356

ID_report 11896389-Pat
Reference PubMed: Kurotaki 2002
Remarks -
Gender -
Consanguinity -
Country Japan
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases SOTOS
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

Sotos syndrome (SOTOS) (SOTOS)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000079538 - - - Isolated (sporadic) - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000101804 DNA FISH - - NSD1 4 Johan den Dunnen



Variants

4 entries on 1 page. Showing entries 1 - 4.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

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     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

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     

Legacy protein change     

Protein level     
5 Unknown +/. - pathogenic g.[NC_000008.10:(159900000_168500000)_qter]delins(176563032_176618884)_qter - - 46,XX,t(5;8)(q35;q24.1) chr5_000000 translocation - - - DUPLICATE record - - - 0 - Johan den Dunnen - - - - - - - - - - - - - - - - - - - - - - - - - - - -
5 Unknown +/. - pathogenic g.(176563032_176618884)_qterdelins[NC_000008.10:(159900000_168500000)_qter] - - 46,XX,t(5;8)(q35;q24.1) NSD1_000000 translocation PubMed: Kurotaki 2002 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen NSD1 - - - - 2i NM_022455.4:c.(927+1_928-1) - r.? p.? - - - - - - - - - - - - - - - - - - -
8 Unknown +/. - pathogenic g.[NC_000005.9:(176563032_176618884)_qter]delins(159900000_168500000)_qter - - 46,XX,t(5;8)(q35;q24.1) chr8_000000 translocation - - - DUPLICATE record - - - 0 - Johan den Dunnen - - - - - - - - - - - - - - - - - - - - - - - - - - - -
8 Unknown +/. - pathogenic g.(159900000_168500000)_qterdelins[NC_000005.9:(176563032_176618884)_qter] - - 46,XX,t(5;8)(q35;q24.1) chr8_000295 translocation PubMed: Kurotaki 2002 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen - - - - - - - - - - - - - - - - - - - - - - - - - - - -
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