Individual #00058414

ID_report -
Reference PubMed: Evila 2014
Remarks 2-generation family, affected child of mother (18948003-FamC)
Gender -
Consanguinity no
Country France
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases TMD
Owner name Claire Chauveau
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2014-02-24 17:38:25 +01:00 (CET)
Date last edited 2014-03-08 19:01:32 +01:00 (CET)


Phenotypes

dystrophy, muscular, tibial (TMD) (TMD)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Age/Examination     

Diagnosis/Definite     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Phenotype details     

Protein     

Owner     
0000045045 - Familial, autosomal recessive - - - - - severe - Claire Chauveau



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000058377 DNA;RNA RT-PCR;SEQ - - TTN 2 Claire Chauveau



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     
2 Maternal (confirmed) +/. - pathogenic g.179392206del g.178527479del 99943delT - TTN_000041 - PubMed: Hackman 2008, PubMed: Evila 2014 - - Germline - - - - - Claire Chauveau TTN - - - - 363 NM_001267550.1:c.107647del - r.107647del p.Ser35883Glnfs*10 - - - - - - - - - - - - - -
2 Unknown +?/. - likely pathogenic g.179400915_179400918dup g.178536188_178536191dup 92854-92857dupACTG - TTN_000554 - PubMed: Evila 2014 - - Unknown - - - - - Claire Chauveau TTN - - - - 358 NM_001267550.1:c.100558_100561dup - r.100558_100561dup p.Gly33521Aspfs*25 - - - - - - - - - - - - - -
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