Individual #00133894

ID_report -
Reference -
Remarks -
Gender -
Consanguinity -
Country Netherlands
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases LGMD-2
Owner name Ieke Ginjaar


Phenotypes

dystrophy, muscular, limb-girdle, autosomal recessive, type 2 (LGMD-2) (LGMD-2)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Age/Examination     

Diagnosis/Definite     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Phenotype details     

Protein     

Owner     
0000106643 dystrophy, muscular, limb-girdle, autosomal recessive, type 2 (LGMD-2) Unknown - dystrophy, muscular, limb-girdle, type 2C (LGMD-2C) - - - - - Ieke Ginjaar



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000134732 DNA SSCA;SEQ - - SGCG 3 Ieke Ginjaar



Variants

3 entries on 1 page. Showing entries 1 - 3.
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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     
13 Parent #1 ?/. g.23824791C>T g.23250652C>T - - SGCG_000062 - - - - Germline - - - 0 - Ieke Ginjaar SGCG - - - - - 4 NM_000231.2:c.320C>T - - r.(?) p.(Ser107Leu) - - - - - - - - - - - - - - - - - - -
13 Parent #2 ?/. g.23898572delC g.23324433delC - - SGCG_000064 - - - - Germline - - - 0 - Ieke Ginjaar SGCG - - - - - 8 NM_000231.2:c.768delC - - r.(?) p.(Ser257Alafs*23) - - - - - - - - - - - - - - - - - - -
13 Unknown -/. g.23898693C>T g.23324554C>T - - SGCG_000038 - - - rs9510701 Germline - - - 0 - Ieke Ginjaar SGCG - - - - - 8 NM_000231.2:c.*13C>T - - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
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