Individual #00206640

ID_report -
Reference PubMed: Kimura 2012
Remarks cardiac abnormalities
Gender F
Consanguinity ?
Country Japan
Population -
Age at death >46y (later than 46 years)
VIP -
Data_av -
Treatment -
Panel size 1
Diseases Andersen syndrome
Owner name Ikuko Takeda
Database submission license No license selected
Created by Ikuko Takeda
Date created 2013-05-22 12:31:07 +02:00 (CEST)
Date last edited N/A


Phenotypes

Andersen syndrome (-)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000154510 bidirectal VT, long QT - - - - - - - - Ikuko Takeda



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000207674 DNA DHPLC;SEQ - - KCNJ2 1 Ikuko Takeda



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     
17 Parent #1 +/? - pathogenic g.68171425G>A g.70175284G>A - - KCNJ2_000017 M1 PubMed: Kimura 2012 - - Unknown - - - - - Ikuko Takeda KCNJ2 - - - - 2 NM_000891.2:c.245G>A - r.(?) p.(Arg82Gln) - - - - - - - - - - - - - -
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