Individual #00146575

ID_report ?
Reference PubMed: Frosk
Remarks European origin, 19 affecteds 5 families
Gender -
Consanguinity -
Country United States
Population Hutterite
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 19
Diseases LGMD-2
Owner name Johan den Dunnen


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     
0000119312 dystrophy, muscular, limb-girdle, autosomal recessive Unknown - LGMD-2I - 02y-25y - 4/14 cardiomyopathy, 9/17 calf hypertrophy; CPK 33x mean - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000147431 DNA SEQ - - FKRP 4 Johan den Dunnen



Variants

4 entries on 1 page. Showing entries 1 - 4.
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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.47258842C>T g.46755585C>T - - FKRP_000021 shared alleles from D19S412 to D19S540 PubMed: Frosk - - Germline - - NgoMIV- 0 - Johan den Dunnen FKRP - - - - - 4 NM_024301.4:c.135C>T - pathogenic (recessive) r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
19 Parent #2 +/. g.47258842C>T g.46755585C>T - - FKRP_000021 shared alleles from D19S412 to D19S540 PubMed: Frosk - - Germline - - NgoMIV- 0 - Johan den Dunnen FKRP - - - - - 4 NM_024301.4:c.135C>T - pathogenic (recessive) r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
19 Parent #1 +/. g.47259533C>A g.46756276C>A - - FKRP_000001 shared alleles from D19S412 to D19S540 PubMed: Frosk - rs28937900 Germline - - BfaI- 0 - Johan den Dunnen FKRP - - - - - 4 NM_024301.4:c.826C>A - pathogenic (recessive) r.(?) p.(Leu276Ile) - - - - - - - - - - - - - - - - - - -
19 Parent #2 +/. g.47259533C>A g.46756276C>A - - FKRP_000001 shared alleles from D19S412 to D19S540 PubMed: Frosk - rs28937900 Germline - - BfaI- 0 - Johan den Dunnen FKRP - - - - - 4 NM_024301.4:c.826C>A - pathogenic (recessive) r.(?) p.(Leu276Ile) - - - - - - - - - - - - - - - - - - -
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