Individual #00183264

ID_report ASHG2018-P1192
Reference Lazar ASHG2018 P1192
Remarks -
Gender F
Consanguinity no
Country Brazil
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases FSHD
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, facioscapulohumeral (FSHD) (FSHD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000143993 ..., muscle weakness, proximal tetraparesis, EMG myopathic FSHD-1 in relatives - Unknown 43y - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000184221 DNA SEQ;SEQ-NG - - DAG1, GMPPB, POMT2 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/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     
3 Unknown +?/. - likely pathogenic g.49570515T>G g.49533082T>G - - DAG1_000046 - Lazar ASHG2018 P1192 - - Germline - - - 0 - Johan den Dunnen DAG1 - - - - - NM_001165928.3:c.2571T>G - r.(?) p.(Asp857Glu) - - - - - - - - - - - - - - - - - - -
3 Unknown +/. - pathogenic g.49759490G>A g.49722057G>A - - GMPPB_000013 - Lazar ASHG2018 P1192 - - Germline - - - 0 - Johan den Dunnen GMPPB - - - - - NM_021971.2:c.859C>T - r.(?) p.(Arg287Trp) - - - - - - - - - - - - - - - - - - -
14 Unknown +?/. - likely pathogenic g.77753148T>C g.77286805T>C - - POMT2_000116 - Lazar ASHG2018 P1192 - - Germline - - - 0 - Johan den Dunnen POMT2 - - - - - NM_013382.5:c.1271A>G - r.(?) p.(His424Arg) - - - - - - - - - - - - - - - - - - -
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