Individual #00133066

ID_report ?
Reference -
Remarks -
Gender -
Consanguinity -
Country Germany
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases LGMD
Owner name Gabriele Dekomien
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

dystrophy, muscular, limb-girdle (LGMD) (LGMD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000105827 - dystrophy, muscular, limb-girdle (LGMD) - Unknown - - - - - Gabriele Dekomien



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000133900 DNA SEQ - - SGCA, SGCB, SGCD, SGCG, SGCZ 3 Gabriele Dekomien



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     
4 Parent #1 ?/. - VUS g.52904414_52904416dup g.52038248_52038250dup - - SGCB_000071 - - - - Germline - - - - - Gabriele Dekomien SGCB - - - - 1 NM_000232.4:c.21_23dup - r.(?) p.(Ala9dup) - - - - - - - - - - - - - - - - - - -
13 Parent #2 ?/+ - VUS g.(23824857_23853497)_(23853618_23869553)del - - - SGCG_000087 - {PMID19056483:Wildforster 2009} - - Germline - - - - - Gabriele Dekomien SGCG - - - - 4i_5i NM_000231.2:c.(385+1_386-1)_(505+1_506-1)del - r.(del) p.(del) - - - - - - - - - - - - - - - - - - -
13 Parent #1 ?/+ - VUS g.(23824857_23853497)_(23853618_23869553)del - - - SGCG_000087 - {PMID19056483:Wildforster 2009} - - Germline - - - - - Gabriele Dekomien SGCG - - - - 4i_5i NM_000231.2:c.(385+1_386-1)_(505+1_506-1)del - r.(del) p.(del) - - - - - - - - - - - - - - - - - - -
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