Individual #00078730

ID_report -
Reference PubMed: Akasaka 1969
Remarks 4-generation family 17 affecteds
Gender -
Consanguinity -
Country Japan
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 17
Diseases GDD
Owner name Johan den Dunnen


Phenotypes

dysplasia, gnathodiaphyseal (GDD) (GDD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000058489 frequent bone fractures, propensity jaw infection, often suffer from purulent osteomyelitis-like symptoms (swelling of/pus discharge from gums, mobility teeth, insufficient healing after tooth extraction, exposure lesions into oral cavity), extragnathic skeletal changes (generalized coarse bony trabeculae, gross thickening diaphyseal cortices long bones) - - Familial, autosomal dominant - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000078918 DNA SSCA;SEQ - - ANO5 1 Johan den Dunnen



Variants

1 entry on 1 page. Showing entry 1.
Legend  

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     
11 Parent #1 +/. g.22272339T>C g.22250793T>C - - ANO5_000001 identified through linkage, not in 1136 control chromosomes (JP, AA) PubMed: Tsutsumi 2004, OMIM:var0001 - - Germline - - - 0 - Johan den Dunnen ANO5 - - - - - 11 NM_213599.2:c.1066T>C - - r.(?) p.(Cys356Arg) - - - - - - - - - - - - - - - - - - -
Legend