Individual #00029643

ID_report -
Reference PubMed: Küry 2002, Journal: Küry 2002
Remarks 2-generation family, 1 affected, unaffected carrier parents
Gender M
Consanguinity no
Country France
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases AEZ
Owner name Sébastien Küry
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2015-01-23 17:55:17 +01:00 (CET)
Date last edited 2025-02-28 15:52:38 +01:00 (CET)


Phenotypes

acrodermatitis enteropathica, Zinc deficiency (AEZ) (AEZ)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000025666 - - - Isolated (sporadic) - - - - - Sébastien Küry



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000029686 DNA SEQ - - SLC39A4 2 Sébastien Küry



Variants

2 entries on 1 page. Showing entries 1 - 2.
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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     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

Function/GVS     

Predict/AGVGD     

Predict/MutationTaster     

Predict/SIFT     

Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
8 Parent #1 +/+ - pathogenic g.145640115_145640118del g.144414731_144414734del 968–971delAGCT - SLC39A4_000002 - PubMed: Küry 2002, Journal: Küry 2002, OMIM:var0002 - - Germline yes - - - - Sébastien Küry SLC39A4 - - - - 5 NM_130849.2:c.970_973del - r.(?) p.(Ser324Argfs*24) - - - - - - - - - - - - - -
8 Parent #2 +?/+? - likely pathogenic g.145640822C>T g.144415438C>T IVS1–19G>A, no RNA available; variant not in reference sequence - SLC39A4_000003 not in 200 control chromosomes PubMed: Küry 2002, Journal: Küry 2002, OMIM:var0003 - - Germline yes - - - - Sébastien Küry SLC39A4 - - - - 1i NM_130849.2:c.475-19G>A - r.spl? p.(=) - - - - - - - - - - - - - -
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