Individual #00043893

ID_report -
Reference PubMed: Ramos 2016, Journal: Ramos 2016
Remarks -
Gender M
Consanguinity -
Country Puerto Rico
Population -
Age/Death >7y (later than 7 years)
VIP 0
Data_av -
Treatment medication steroids; no ventilator; no surgery contractures
Panel size 1
Diseases -
Owner name Manuel F. Mas Rodriguez


Phenotypes

dystrophy, muscular, Duchenne type (DMD) (DMD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000092846 confirmatory test DNA; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >7y; contractures (HP:0001371); elevated serum CPK (HP:0003236) 27580; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) dystrophy, muscular, Duchenne type (DMD) - Isolated (sporadic) 7y - - - Manuel F. Mas Rodriguez



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000063256 DNA ? - - DMD 1 Manuel F. Mas Rodriguez



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     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
X Maternal (inferred) +/. g.(31697577_31747779)_(32235089_32305740)del g.(31679460_31729662)_(32216972_32287623)del c.(6290+1_6291-1)_(7660+1_7661-1)del - DMD_014452 in paper as del ex44-47 PubMed: Ramos 2016, Journal: Ramos 2016 - - Germline - - - 0 - Manuel F. Mas Rodriguez DMD - - - - - 43i_52i NM_004006.2:c.(6196_6382)_(7629_7787)del - pathogenic (recessive) r.(del) p.(fs) - - - - - - - - - - - - - - - - - - -
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