Individual #00234356

ID_report Pat2
Reference PubMed: Prior 2009
Remarks -
Gender F
Consanguinity -
Country United States
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases SMA
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 2019-05-10 11:34:10 +02:00 (CEST)
Date last edited N/A


Phenotypes

atrophy, muscular, spinal (SMA) (SMA)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000174775 see paper; ..., early motor milestones normal (9m-crawl, 15m-stand with support, 18m-walk; 2–3 years gait unsteady, hold on to furniture while waking; 5-6y assisted ambulation; 12y-wheelchair dependent; 14y-scoliosis surgery spinal muscular atrophy SMA-3 Familial, autosomal recessive 31y - 03y - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000235458 DNA PCR;SEQ - - SMN1, SMN2 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     

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     
5 Parent #2 +/. - pathogenic g.(?_69372347)_(69372402_?)del - - - SMN2_000004 - PubMed: Prior 2009 - - Germline - - - - - Johan den Dunnen SMN2 - - - - _7i_8i_ NM_017411.3:c.(?_835-1)_(*3+1_?)del - r.0? p.0? - - - - - - - - - - - - - -
5 Parent #1 +/. - benign (!) g.69372372G>C g.70076545G>C - - SMN2_000003 - PubMed: Prior 2009 - - Germline - - - - - Johan den Dunnen SMN2 - - - - - NM_017411.3:c.859G>C - r.(?) p.(Gly287Arg) - - - - - - - - - - - - - -
5 Both (homozygous) +/. - pathogenic (recessive) g.(?_70247767)_(70247822_?)del - - - SMN1_000082 - PubMed: Prior 2009 - - Germline - - - - - Johan den Dunnen SMN1 - - - - _7i_8i_ NM_000344.3:c.(?_835-1)_(*3+1_?)del - r.? p.? - - - - - - - - - - - - - -
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