Individual #00106791

ID_report -
Reference PubMed: Scott 1992
Remarks -
Gender -
Consanguinity -
Country Italy
Population Italian
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases MPS1H
Owner name Gerard C.P. Schaafsma
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

Hurler syndrome (mucopolysaccharidosis, type Ih (MPS-1H)) (MPS1H)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000084589 Hurler syndrome - - Familial, autosomal recessive - - - - - Gerard C.P. Schaafsma



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000107262 DNA SEQ - - IDUA 2 Gerard C.P. Schaafsma



Variants

2 entries on 1 page. Showing entries 1 - 2.
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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/MutationTaster     

Predict/SIFT     

Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
4 Parent #1 ?/. - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - - - Gerard C.P. Schaafsma IDUA - - - - 2 NM_000203.3:c.208C>T - r.(?) p.(Gln70*) - - - - - - - - - - - - - -
4 Parent #2 ?/. - VUS g.994682_994687del g.1000894_1000899del 398_403del6 - IDUA_000011 r.spl? PubMed: Venturi 2002 - - Germline - - - - - Gerard C.P. Schaafsma IDUA - - - - 4 NM_000203.3:c.398_403del - r.(?) p.(Met133_Gly134del) - - - - - - - - - - - - - -
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