Individual #00078805

ID_report -
Reference PubMed: Marconi 2012
Remarks 6-generation family, 15 affecteds
Gender F
Consanguinity -
Country Italy
Population -
Age/Death >41y (later than 41 years)
VIP 0
Data_av -
Treatment -
Panel size 11
Diseases GDD
Owner name Johan den Dunnen


Phenotypes

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

AscendingPhenotype ID     

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Owner     
0000058564 cemento-osseous lesions jaw bones, inferior arch sclerosis, bilateral periodontopathy, bones thickening areas, jaw bones sclerosis, right jaw angle structural rearrangement, jaw odontoid cystis with included tooth purulent osteomyelitis; raised CPK (HP:0003236) 809 mU/ml - - Familial, autosomal recessive 41y - 11y spontaneous fractures thighbones, slow healing - Johan den Dunnen



Screenings


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Variants found     

Owner     
0000078993 DNA SEQ - - ANO5 1 Johan den Dunnen



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

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Exon_old     

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Protein level     
11 Parent #1 +/. g.22281195C>T g.22259649C>T - - ANO5_000043 not in 400 control chromosomes PubMed: Marconi 2012 - - Germline - - - 0 - Johan den Dunnen ANO5 - - - - - 15 NM_213599.2:c.1538C>T - - r.(?) p.(Thr513Ile) - - - - - - - - - - - - - - - - - - -
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