Individual #00103970

ID_report -
Reference PubMed: Oliveira 2018, Journal: Oliveira 2018
Remarks -
Gender -
Consanguinity -
Country Portugal
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases MD
Owner name Jorge Oliveira


Phenotypes

dystrophy, muscular (MD) (MD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000125437 - dystrophy, muscular - Unknown - - - - - Jorge Oliveira



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000104439 DNA SEQ - - LAMA2 2 Jorge Oliveira



Variants

2 entries on 1 page. Showing entries 1 - 2.
Legend  

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     
6 Unknown +/. g.129601216A>C g.129280071A>C - - LAMA2_000297 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - Germline - - - 0 - Jorge Oliveira LAMA2 - - - - - 18 NM_000426.3:c.2461A>C - - r.(?) p.(Thr821Pro) - - - - - - - - - - - - - - - - - - -
6 Unknown +/. g.129634203dup g.129313058dup - - LAMA2_000483 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - Germline - - - 0 - Jorge Oliveira LAMA2 - - - - - 23 NM_000426.3:c.3372dup - - r.(?) p.(Cys1125Metfs*4) - - - - - - - - - - - - - - - - - - -
Legend