Individual #00024568

ID_report -
Reference PubMed: Hoornaert 2010
Remarks -
Gender -
Consanguinity -
Country ? (unknown)
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases STL1
Owner name Isabelle Touitou
Database submission license No license selected
Created by Isabelle Touitou


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     
0000020686 - - - Unknown 42y - - - - Isabelle Touitou



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000024560 DNA CSCE;DHPLC;SEQ;SSCA - - COL2A1 1 Isabelle Touitou



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 Unknown +/. - pathogenic g.48391491C>G g.47997708C>G - - COL2A1_000280 cDNA analysis reveals that this splice site mutation generate 3 RNA isoforms PubMed: Hoornaert 2010 - - Unknown - - - 0 - Isabelle Touitou COL2A1 - - - - - 6i NM_001844.4:c.430-1G>C - r.spl p.(Lys143_Asn178delExon7); p.(Gly144Valfs*54); p.(Gln125_Gly126ins19*20) - - - - - - - - - - - - - - - - - - -
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