Individual #00056477

ID_report -
Reference -
Remarks 2-generation family, 1 affected, unaffected carrier parents
Gender F
Consanguinity -
Country Italy
Population -
Age at death 14y (14 years)
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases MDC
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

dystrophy, muscular, congenital (MDC) (MDC)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000043165 dystrophy, muscular congenital (CMD), cerebellar involvement; decreased fetal movement; severe intellectual delay; drug-resistant epilepsy; motor delay; strabismus; no cardiorespiratory findings; brain MRI cerebellar hypoplasia; CPK 630 max U/l; max motor ability unable to sit - - Isolated (sporadic) - - 4m poor head control - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000056438 DNA SEQ; SEQ-NG-I - - GMPPB 2 Johan den Dunnen



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     

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Re-site     

VIP     

Methylation     

Owner     

Gene     

IDbase Accession Number     

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Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
3 Parent #2 +/. - pathogenic g.49759489C>T g.49722056C>T - - GMPPB_000006 exome sequencing PubMed: Carss 2013 - - Germline yes - - 0 - Johan den Dunnen GMPPB - - - - - NM_021971.2:c.860G>A - r.(?) p.(Arg287Gln) - - - - - - - - - - - - - - - - - - -
3 Parent #1 +/. - pathogenic g.49761065G>A g.49723632G>A - - GMPPB_000003 exome sequencing PubMed: Carss 2013 - - Germline yes - - 0 - Johan den Dunnen GMPPB - - - - - NM_021971.2:c.95C>T - r.(?) p.(Pro32Leu) - - - - - - - - - - - - - - - - - - -
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