Individual #00300064

ID_report -
Reference PubMed: Antoniadi 2015
Remarks analysis 448 inherited peripheral neuropathy cases
Gender -
Consanguinity -
Country United Kingdom (Great Britain)
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases HMN
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-04-22 19:54:00 +02:00 (CEST)
Date last edited N/A


Phenotypes

neuropathy, motor, distal, hereditary (HMN) (HMN)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000227385 - hereditar motor neuropathy - Familial, autosomal recessive - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000301180 DNA SEQ - 56-gene neuropathy panel IGHMBP2 1 Johan den Dunnen



Variants

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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     
11 Unknown +?/. - likely pathogenic (recessive) g.68679021del g.68911553del c.661delA - IGHMBP2_000039 - PubMed: Antoniadi 2015 - - Germline - - - - - Johan den Dunnen IGHMBP2 - - - - - NM_002180.2:c.661del - r.(?) p.(Thr221Profs*12) - - - - - - - - - - - - - -
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