Individual #00174819

ID_report Pat205
Reference PubMed: Fichna 2018
Remarks -
Gender F
Consanguinity -
Country Poland
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases LGMD
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, 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     
0000139646 onset overt symptoms adulthood; CPK raised 4x; asymmetric limb-girdle weakness; transient respiratory failure after general anesthesia; generalized muscle atrophy, calf atrophy; no clear dystrophic features in biopsy; ambulation preserved limb-girdle muscular dystrophy - Isolated (sporadic) 41y - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000175710 DNA SEQ-NG - WES - 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     

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Segregation     

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Re-site     

VIP     

Methylation     

Owner     

Gene     

Codon change     

IDbase Accession Number     

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Exon     

DNA change (cDNA)     

Haplotype     

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Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

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Predict/PolyPhen     

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Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
2 Parent #1 ?/. ACMG VUS g.233391256G>A g.232526546G>A - - CHRND_000029 ACMG grading: PM2 PubMed: Fichna 2018 - - Germline - - - 0 - Johan den Dunnen CHRND - - - - - - NM_000751.2:c.70G>A - r.(?) p.(Glu24Lys) - - - - - - - - - - - - - - - - - - - -
16 Parent #1 ?/. ACMG VUS g.47684830C>A g.47650919C>A - - PHKB_000009 ACMG grading: PP3; additional variants in MYF6, POMT1, MYH2 PubMed: Fichna 2018 - - Germline - - - 0 - Johan den Dunnen PHKB - - - - - - NM_000293.2:c.1969C>A - r.(?) p.(Gln657Lys) - - - - - - - - - - - - - - - - - - - -
16 Parent #2 ?/. ACMG VUS g.47694729A>G g.47660818A>G - - PHKB_000010 ACMG grading: PP3; additional variants in MYF6, POMT1, MYH2 PubMed: Fichna 2018 - - Germline - - - 0 - Johan den Dunnen PHKB - - - - - - NM_000293.2:c.2195A>G - r.(?) p.(Asn732Ser) - - - - - - - - - - - - - - - - - - - -
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