Individual #00112924

ID_report -
Reference Leiden, unpublished
Remarks -
Gender -
Consanguinity -
Country Netherlands
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases myotonia, potassium-aggravated
Owner name Vincent Janmaat
Database submission license No license selected
Created by Vincent Janmaat


Phenotypes

myotonia, potassium-aggravated (-)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000088406 Myotonia P - - Unknown - - - - - Vincent Janmaat



Screenings


AscendingScreening ID     

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Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000113382 DNA SEQ - - SCN4A 3 Vincent Janmaat



Variants

3 entries on 1 page. Showing entries 1 - 3.
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Chr     

Allele     

Effect     

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Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

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Legacy protein change     

Protein level     
17 Paternal (confirmed) -/- - benign g.62020348C>T g.63942988C>T - - SCN4A_000061 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Leiden, unpublished - - Germline - - - 0 - Vincent Janmaat SCN4A - - - - - 23 NM_000334.4:c.4126G>A - r.(?) p.(Asp1376Asn) - - - - - - - - - - - - - - - - - - - -
17 Maternal (confirmed) -/- - benign g.62020348C>T g.63942988C>T - - SCN4A_000061 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Leiden, unpublished - - Germline - - - 0 - Vincent Janmaat SCN4A - - - - - 23 NM_000334.4:c.4126G>A - r.(?) p.(Asp1376Asn) - - - - - - - - - - - - - - - - - - - -
17 Unknown +/+ - pathogenic g.62034833G>A g.63957473G>A - - SCN4A_000030 - Leiden, unpublished - - Germline - - - 0 - Vincent Janmaat SCN4A - - - - - 13 NM_000334.4:c.2065C>T - r.(?) p.(Leu689Phe) - - - - - - - - - - - - - - - - - - - -
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