Individual #00144331

ID_report 25614876-Pat3
Reference PubMed: Baskin 2014
Remarks 2-generation family, 1 affected, heterozygous carrier mother
Gender F
Consanguinity -
Country Canada
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 2
Diseases -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

dystrophinopathy (BMD or DMD) (BMD/DMD)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000117103 dystrophy, muscular DMD - Isolated (sporadic) - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000145191 DNA arrayCGH;SEQ - - DMD 3 Johan den Dunnen



Variants

3 entries on 1 page. Showing entries 1 - 3.
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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     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

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     
X Unknown ?/. - VUS g.(10435000_10417407)_(10535588_10917000)dup - - - MID1_000000 496 kb duplication MID1 PubMed: Baskin 2014 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen MID1 - - - - - _1_10_ NM_000381.3:c.(?_-1)_(*1_?)dup - r.? p.? - - - - - - - - - - - - - - - - - - - -
X Paternal (confirmed) +/. - pathogenic (recessive) g.(31747866_31792076)_(31986632_32235032)dup g.(31729749_31773959)_(31968515_32216915)dup - - DMD_064551 de novo duplication on paternal allele PubMed: Baskin 2014 - - De novo - - - 0 random X-inactivation Johan den Dunnen DMD - - - - - 44i_51i NM_004006.2:c.(6438+1_6439-1)_(7542+1_7543-1)dup - r.(6439_7542)dup p.? - - - - - - - - - - - - - - - - - - - -
X Maternal (confirmed) +/. - pathogenic (recessive) g.(31893491_31947712)_(31947863_31950196)del g.(31875374_31929595)_(31929746_31932079)del - - DMD_054747 30563 bp exon 47 deletion PubMed: Baskin 2014 - - Germline - - - 0 random X-inactivation Johan den Dunnen DMD - - - - - 46i_47i NM_004006.2:c.(6762+1_6763-1)_(6912+1_6913-1)del - r.(6763_6912del) p.? - - - - - - - - - - - - - - - - - - - -
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