Individual #00117381

ID_report -
Reference PubMed: Kondo H
Remarks -
Gender M
Consanguinity ?
Country (Japan)
Population Asian
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 5
Diseases STL1
Owner name Mouna Barat-Houari
Database submission license No license selected
Created by Mouna Barat-Houari


Phenotypes

Stickler syndrome, type I (STL-1) (STL1)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000092613 - - - Familial, autosomal dominant 10y 09y 03y - - Mouna Barat-Houari



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000117845 DNA SEQ blood - COL2A1 1 Mouna Barat-Houari



Variants

1 entry on 1 page. Showing entry 1.
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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     

Codon change     

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     
12 Maternal (confirmed) +/. - pathogenic g.48391985del g.47998202del - - COL2A1_000495 - PubMed: Kondo 2016 - - Germline yes - - 0 - Mouna Barat-Houari COL2A1 - - - - - 4 NM_001844.4:c.311del - r.(?) p.(Gly104Aspfs*13) - - - - - - - - - - - - - - - - - - -
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