Individual #00390608

ID_report Pat125
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


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     
0000284145 deceased; Fukuyama congenital muscular dystrophy; 1y-sit; contractures ankle, knee; intellectual disability; seizures; no eye movement; CK level 7765-8718 IU/L; MRI brain polymicrogyria or pachygyria, cerebellar abnormalities with or without brainstem hypoplasia; EMG myogenic; EGC normal; UCG normal congenital muscular dystrophy, mental retardation - Familial, autosomal dominant 4y4m - 1d - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000391849 DNA SEQ;SEQ-NG - - - 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     

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/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     
9 Parent #1 +/. - pathogenic (recessive) g.108363606C>T g.105601325C>T - - FKTN_000050 - PubMed: Song 2021 - - Germline - - - - - Johan den Dunnen FKTN - - - - - NM_001079802.1:c.346C>T - r.(?) p.(Gln116Ter) - - - - - - - - - - - - - - - - - - -
9 Parent #2 +/. - pathogenic (recessive) g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] c.4375_4376ins AB185332.1 - FKTN_000001 - PubMed: Song 2021 - - Germline - - - - - Johan den Dunnen FKTN - - - - - NM_001079802.1:c.*4375_*4376ins[AB185332.1:g.1_3062] - r.? p.? - - - - - - - - - - - - - - - - - - -
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