Individual #00025000

ID_report -
Reference PubMed: Girelli 1995
Remarks 2-generation family, 3 affecteds (father and son/daugther)
Gender -
Consanguinity -
Country Italy
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 3
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     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

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Phenotype/Onset     

Protein     

Owner     
0000021120 see paper; congenital bilateral nuclear cataract, serum ferritin 950-2,259 ug/L - - Familial, autosomal dominant - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000025002 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)     

Published as     

ISCN     

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Reference     

ClinVar ID     

dbSNP ID     

Origin     

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Re-site     

VIP     

Methylation     

Owner     

Gene     

Effect     

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     

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Protein/Legacy     

CodonNr     

Method     

Predict/AGVGD     

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Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein/Stain     

Protein level     
19 Paternal (confirmed) g.49468606G>C g.48965349G>C 147G>C - FTL_000002 - PubMed: Girelli 1995, OMIM:var0002 - rs398124634 Germline yes - - 0 - Johan den Dunnen FTL +/. - - - - - 1 NM_000146.3:c.-159G>C - - r.(?) p.(?) - - - - - - - - - - - - - - - - - - - - - - -
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