Individual #00107780

ID_report -
Reference PubMed: Campeau
Remarks -
Gender F
Consanguinity no
Country -
Population Greek/Turkish
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases HLPS
Owner name Philippe Campeau
Database submission license No license selected
Created by Philippe Campeau


Phenotypes

syndrome, histiocytosis-lymphadenopathy plus (HLPS) (HLPS)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000085543 recurrent transient erythematous papules on the lower abdomen, fractures, cortical thickening and widening of the diaphysis of the long bones, cranial base sclerosis, broad ribs with sclerosis, and platyspondyly; Dysosteosclerosis - - Familial, autosomal recessive 03y - - - - Philippe Campeau



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000108251 DNA SEQ - - SLC29A3 2 Philippe Campeau



Variants

2 entries on 1 page. Showing entries 1 - 2.
Legend   How to query  

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     

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     

Legacy protein change     

Protein level     
10 Maternal (confirmed) +/? - pathogenic g.73111542T>C g.71351785T>C - - SLC29A3_000014 - - - - Germline - - - 0 - Philippe Campeau SLC29A3 - - - - - 4 NM_018344.5:c.607T>C - r.(?) p.Ser203Pro - - - - - - - - - - - - - - - - - - - -
10 Paternal (confirmed) +/? - pathogenic g.73122094G>A g.71362337G>A - - SLC29A3_000015 - - - - Germline - - - 0 - Philippe Campeau SLC29A3 - - - - - 6 NM_018344.5:c.1157G>A - r.(?) p.Arg386Gln - - - - - - - - - - - - - - - - - - - -
Legend   How to query