Individual #00112098

ID_report -
Reference -
Remarks -
Gender F
Consanguinity -
Country Italy
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
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     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000087717 Becker - - Familial, autosomal recessive - - - - - Raffaella Brugnoni



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000112415 DNA SEQ - - CLCN1 2 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)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

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     

Legacy protein change     

Protein level     
7 Unknown +/+ - pathogenic g.143027882G>A g.143330789G>A - - CLCN1_000058 - - - - Germline - - - 0 - Raffaella Brugnoni CLCN1 - - - - 8 NM_000083.2:c.871G>A - r.(?) p.(Glu291Lys) - - - - - - - - - - - - - - - - - - -
7 Unknown +?/? - likely pathogenic g.143028357C>T g.143331264C>T - - CLCN1_000214 - - - - Germline - - - 0 - Raffaella Brugnoni CLCN1 - - - - 9 NM_000083.2:c.1012C>T - r.(?) p.Arg338* - - - - - - - - - - - - - - - - - - -
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