Individual #00146683

ID_report 14
Reference PubMed: Walter
Remarks -
Gender M
Consanguinity -
Country Germany
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases LGMD-2
Owner name Rolf Stucka


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     
0000119347 dystrophy, muscular, limb-girdle, autosomal recessive Familial - LGMD-2I - 3y - - - Rolf Stucka



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000147539 DNA SEQ - - FKRP 3 Rolf Stucka



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     
19 Parent #1 -/. g.47248979C>G - - - FKRP_000033 - PubMed: Walter - - Germline - - BfaI- 0 - Rolf Stucka FKRP - - - - - 1 NM_024301.4:c.-621C>G - benign r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
19 Parent #2 +/. g.47259069T>A - - - FKRP_000028 - PubMed: Walter - - Germline - - - 0 - Rolf Stucka FKRP - - - - - 4 NM_024301.4:c.362T>A - pathogenic (recessive) r.(?) p.(Val121Glu) - - - - - - - - - - - - - - - - - - -
19 Parent #1 +/. g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: Walter - rs28937900 Germline - - BfaI- 0 - Rolf Stucka FKRP - - - - - 4 NM_024301.4:c.826C>A - pathogenic (recessive) r.(?) p.(Leu276Ile) - - - - - - - - - - - - - - - - - - -
Legend