Individual #00390566

ID_report Pat83
Reference PubMed: Song 2021
Remarks -
Gender F
Consanguinity -
Country China
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases MDDG
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 2021-11-10 16:44:31 +01:00 (CET)
Date last edited N/A


Phenotypes

dystrophy, muscular, dystroglycanopathy (MDDG) (MDDG)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000284103 congenital muscular dystrophy, mental retardation; normal motor ability; no contractures; intellectual disability; no seizures; no eye involvement; CK level 3571 IU/L; MRI brain nonspecific white matter changes; IHC reduced DAG; EGC normal; UCG normal limb-girdle muscular dystrophy - Familial, autosomal dominant 11m - 3m - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000391807 DNA SEQ;SEQ-NG - - - 2 Johan den Dunnen



Variants

2 entries on 1 page. Showing entries 1 - 2.
Legend   How to query  

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     
9 Parent #1 +/. - pathogenic (recessive) g.134379715C>T g.131504328C>T - - POMT1_000251 - PubMed: Song 2021 - - Germline - - - - - Johan den Dunnen POMT1 - - - - - NM_007171.3:c.110C>T - r.(?) p.(Pro37Leu) - - - - - - - - - - - - - -
9 Parent #2 +/. - pathogenic (recessive) g.134384299_134384300del g.131508912_131508913del c.428-2_428-1delAG - POMT1_000253 - PubMed: Song 2021 - - Germline - - - - - Johan den Dunnen POMT1 - - - - - NM_007171.3:c.428-2_428-1del - r.spl p.? - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.