Individual #00454812

ID_report -
Reference Debeuf et al, submitted
Remarks ID: HHD5
Gender M
Consanguinity -
Country Netherlands
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases BCPM
Owner name Michel van Geel
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Michel van Geel
Date created 2024-09-27 18:17:25 +02:00 (CEST)
Date last edited N/A


Phenotypes

pemphigus, chronic, benign (BCPM, Hailey-Hailey disease (HHD)) (BCPM;HHD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000343422 - Hailey-Hailey disease - Familial, autosomal dominant - 63y - - - Michel van Geel



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000456423 DNA SEQ blood - ATP2C1 1 Michel van Geel



Variants

1 entry on 1 page. Showing entry 1.
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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     
3 Unknown +/+ ACMG pathogenic g.130653560G>T g.130934716G>T - - ATP2C1_000197 variant results in exon 4 skipping Debeuf et al, submitted - - Germline yes - - - - Michel van Geel ATP2C1 - - - - 4i NM_001001486.1:c.324+5G>T - r.235_324del p.Phe79_Val108del - - - - - - - - - - - - - -
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