Individual #00056342

ID_report -
Reference Case5 PubMed: Zanotelli 1998
Remarks carrier father (no complaint myopathic signs)
Gender M
Consanguinity -
Country Brazil
Population -
Age/Death >12y (later than 12 years)
VIP 0
Data_av -
Treatment -
Panel size 2
Diseases CNM-1
Owner name Johan den Dunnen


Phenotypes

myopathy, centronuclear, type 1 (CNM-1) (CNM-1)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000042955 early onset; neonatal hypotonia, hypoxia; 12y-stable or slowly progressive disease, general hypotonia, diffuse weakness (predominantly proximal portions limbs) ophthalmoparesis - - Isolated (sporadic) - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000056293 DNA DHPLC;SEQ;Southern - - DNM2, MTMR14 1 Johan den Dunnen



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

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     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

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Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
3 Paternal (confirmed) +?/. g.9726311G>A g.9684627G>A - - MTMR14_000001 not in 820 control chromosomes; carrier father unaffected PubMed: Tosch 2006, OMIM:var0001 - rs121434509 Germline - 1/50 cases CNM - 0 - Johan den Dunnen MTMR14 - - - - - 11 NM_001077525.2:c.1007G>A - - r.(?) p.(Arg336Gln) - - - - - - - - - - - - - - - - - - -
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