Individual #00331533

ID_report 09DG00617
Reference PubMed: Maddirevula 2018
Remarks isolated case
Gender F
Consanguinity yes
Country -
Population Arab
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases skeletal dysplasia
Owner name LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-02-11 15:29:38 +01:00 (CET)
Date last edited N/A


Phenotypes

dysplasia, skeletal (skeletal dysplasia)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000249725 skeletal dysplasia Slender bone dysplasia group Short stature, Joint laxity Familial, autosomal recessive - - - - - LOVD



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000332752 DNA SEQ;SEQ-NG - WES OBSL1 1 LOVD



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     

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     
2 Both (homozygous) +/. - pathogenic (recessive) g.220432671del g.219567949del NM_015311.2:c.1306delC:p.(Arg436Glyfs*14) - OBSL1_000065 - PubMed: Maddirevula 2018 - - Germline - - - - - LOVD OBSL1 - - - - - NM_015311.2:c.1303del - r.(?) p.(Arg436Glyfs*14) - - - - - - - - - - - - - -
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