Individual #00106836

ID_report -
Reference PubMed: Bertola 2011
Remarks -
Gender -
Consanguinity -
Country Italy
Population Italian
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases Scheie
Owner name Gerard C.P. Schaafsma


Phenotypes

syndrome, Scheie (mucopolysaccharidosis (MPS-1S)) (Scheie;MPS-1S)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000084634 Scheie syndrome - - Familial, autosomal recessive - - - - - Gerard C.P. Schaafsma



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000107307 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     

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     
4 Parent #1 ?/. g.996128C>G - - - IDUA_000027 Decrease in protein stability and gain of post-translational modifications PubMed: Bertola 2011 - - Germline - - - 0 - Gerard C.P. Schaafsma IDUA - - - - - 8 NM_000203.3:c.1044C>G - - r.(?) p.(Asn348Lys) - - - - - - - - - - - - - - - - - - -
4 Parent #2 ?/. g.997418G>C - - - IDUA_000049 Exon 12 skipping PubMed: Bertola 2011 - - Germline - - - 0 - Gerard C.P. Schaafsma IDUA - - - - - 12 NM_000203.3:c.1727+5G>C - - r.spl? p.? - - - - - - - - - - - - - - - - - - -
Legend