Individual #00174794

ID_report Pat214;A5(II1)
Reference PubMed: Fichna 2018, PubMed: Macias 2021
Remarks 2-eneration family, affected sister/brother
Gender F
Consanguinity -
Country Poland
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 2
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
Date created 2018-08-10 19:10:48 +02:00 (CEST)
Date last edited 2021-12-11 21:04:08 +01:00 (CET)


Phenotypes

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

AscendingPhenotype ID     

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Protein     

Owner     
0000139621 onset overt symptoms adulthood; CPK raised 22x; progressive limb-girdle weakness; diffuse muscle atrophy; waddling gait limb-girdle muscular dystrophy - Familial, autosomal recessive 41y - - - - Johan den Dunnen



Screenings


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Variants found     

Owner     
0000175685 DNA SEQ-NG - WES - 7 Johan den Dunnen



Variants

7 entries on 1 page. Showing entries 1 - 7.
Legend   How to query  

Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

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mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
2 Unknown ?/. - VUS g.238280504C>T - - - COL6A3_000005 - PubMed: Macias 2021 - - Germline - - - - - Johan den Dunnen COL6A3 - - - - - NM_004369.3:c.4156G>A - r.(?) p.(Glu1386Lys) - - - - - - - - - - - - - -
15 Paternal (confirmed) -?/. - likely benign g.42642385C>T g.42350187C>T - - CAPN3_000893 - PubMed: Macias 2021 - rs1358635511 Germline - - - - - Johan den Dunnen CAPN3, GANC - - - - _1, NM_000070.2:-, NM_198141.2:c.2531+692C>T - r.(?) p.(=) - - - - - - - - - - - - - -
15 Paternal (confirmed) ?/. - VUS g.42675788C>T g.42383590C>T - - CAPN3_000889 - PubMed: Macias 2021 - rs546534693 Germline - - - - - Johan den Dunnen CAPN3 - - - - - NM_000070.2:c.310-893C>T - r.(?) p.(=) - - - - - - - - - - - - - -
15 Maternal (confirmed) +?/. - likely pathogenic (recessive) g.42680050_42680064del - 598_612delTTCTGGAGTGCTCTG - CAPN3_000025 - PubMed: Macias 2021 - - Germline - - - - - Johan den Dunnen CAPN3 - - - - - NM_000070.2:c.598_612del - r.(?) p.(Phe200_Leu204del) - - - - - - - - - - - - - -
15 Paternal (confirmed) +?/. - likely pathogenic (recessive) g.42695919C>G g.42403721C>G - - CAPN3_000140 - PubMed: Macias 2021 - rs201892814 Germline - - - - - Johan den Dunnen CAPN3 - - - - - NM_000070.2:c.1746-20C>G - r.spl? p.(?) - - - - - - - - - - - - - -
15 Paternal (confirmed) ?/. - VUS g.42696198A>G g.42404000A>G - - CAPN3_000890 - PubMed: Macias 2021 - rs141693768 Germline - - - - - Johan den Dunnen CAPN3 - - - - - NM_000070.2:c.1782+223A>G - r.(?) p.(=) - - - - - - - - - - - - - -
15 Paternal (confirmed) ?/. - VUS g.42699147C>G g.42406949C>G - - CAPN3_000891 - PubMed: Macias 2021 - rs146933502 Germline - - - - - Johan den Dunnen CAPN3 - - - - - NM_000070.2:c.1800+1006C>G - r.(?) p.(=) - - - - - - - - - - - - - -
Legend   How to query  


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