Individual #00411583

ID_report Pat41
Reference PubMed: Brugnoni 2022, Journal: Brugnoni 2022
Remarks -
Gender F
Consanguinity no
Country Italy
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 4
Diseases myotonia congenita, autosomal recessive (Becker disease)
Owner name Raffaella Brugnoni
Database submission license No license selected
Created by Raffaella Brugnoni


Phenotypes

myotonia congenita, autosomal recessive (Becker disease) (-)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

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Protein     

Owner     
0000303949 myotonia; EMG myotonia; no warm-up phenomenon/paradoxical myotonia; no muscle weakness; no muscle hypertrophy; myopathy not painful; no episodic paralysis non-dystrophic myotonia - Familial, autosomal dominant - - 16y - - Johan den Dunnen



Screenings


AscendingScreening ID     

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Variants found     

Owner     
0000412854 DNA SEQ-NG - - CLCN1 1 Raffaella Brugnoni
0000412855 DNA SEQ-NG - - SCN4A 1 Raffaella Brugnoni



Variants

2 entries on 1 page. Showing entries 1 - 2.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

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Predicted     

Type/DNA     

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CpG     

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mRNA level     

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Legacy protein change     

Protein level     
7 Paternal (inferred) +/. - likely pathogenic g.143047665A>C - - - CLCN1_000345 - PubMed: Brugnoni 2022, Journal: Brugnoni 2022 - - Germline yes - - 0 - Raffaella Brugnoni CLCN1 - - - - 22 NM_000083.2:c.2513A>C - r.(?) p.(His838Pro) - - - - - - - - - - - - - - - - - - -
17 Paternal (inferred) +?/. ACMG VUS g.62022040T>C - - - SCN4A_000271 ACMG PM1, PM2, PP1, PP2, PP3 PubMed: Brugnoni 2022, Journal: Brugnoni 2022 - - Germline yes - - 0 - Raffaella Brugnoni SCN4A - - - - 21 NM_000334.4:c.3905A>G - r.(?) p.(Lys1302Arg) - - - - - - - - - - - - - - - - - - -
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