Individual #00024996

ID_report -
Reference PubMed: Aguilar-Martinez 1996
Remarks 2-generation family, affected boy and father
Gender M
Consanguinity no
Country France
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 2
Diseases HHCS
Owner name Johan den Dunnen


Phenotypes

hyperferritinemia, with/without cataract (HHCS) (HHCS)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

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Protein     

Owner     
0000021116 hyperferritinemia (1,000 wg/L), no evidence iron overload (serum iron/transferrin saturation normal; blood cell counts and acute phase reactant normal; hereditary cataract (incl. father, grandfather); father hyperfemtinemia (780,ug/L) - - Familial, autosomal dominant 08y - - - - Johan den Dunnen



Screenings


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Variants found     

Owner     
0000024998 DNA SEQ;SSCA - - FTL 1 Johan den Dunnen



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

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Protein level     
19 Paternal (confirmed) g.49468605A>G g.48965348A>G 146A>G - FTL_000001 - PubMed: Aguilar-Martinez 1996, OMIM:var0001 - rs398124633 Germline yes - - 0 - Johan den Dunnen FTL +/. - - - - - 1 NM_000146.3:c.-160A>G - - r.(?) p.(?) - - - - - - - - - - - - - - - - - - - - - - -
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