Individual #00376350

ID_report FamIndII2
Reference PubMed: Chin 2021
Remarks 3-generation family, carrier mother/daugther, carrier fetus/uncle
Gender -
Consanguinity -
Country Canada
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 4
Diseases Healthy/Control
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 2021-06-21 21:10:45 +02:00 (CEST)
Date last edited N/A


Phenotypes

Healthy individual / control (Healthy/Control)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000271558 variant identified incidentally during assessment daughter with paroxysmal episodes eventually attributed to benign positional torticollis and episodic ataxia syndrome or benign paroxysmal vertigo uncertain control Familial, autosomal recessive - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000377553 DNA MLPA;SEQ;SEQ-ON;SEQ-NG - - DMD 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     
X Maternal (confirmed) -?/. - benign g.31362638_31362639ins[T;30939526_31362638] g.31344521_31344522ins[T;30921409_31344521] hg19 30939526–31362638dup - DMD_068312 duplication exons 62-79 PubMed: Chin 2021 - - Germline yes - - - - Johan den Dunnen DMD, FTHL17 - - - - 61i_79_, _1_ NM_004006.2:c.9163+4035_*2691{2}, NM_031894.2:c.-100_*161{2} - r.(?) p.(=) - - - - - - - - - - - - - -
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