Individual #00080894

ID_report -
Reference PubMed: Trujillano 2017
Remarks unaffected parents
Gender -
Consanguinity -
Country -
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases myotonia congenita, autosomal recessive (Becker disease)
Owner name Daniel Trujillano
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


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     
0000060463 Myotonia congenita, recessive (OMIM:255700) - - Familial, autosomal recessive - - - - - Daniel Trujillano



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000081006 DNA SEQ;SEQ-NG - - CLCN1 1 Daniel Trujillano



Variants

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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     

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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     

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Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
7 Both (homozygous) +/+ ACMG pathogenic g.143028708C>T g.143331615C>T - - CLCN1_000081 - PubMed: Trujillano 2017 - - Germline - - - 0 - Daniel Trujillano CLCN1 - - - - 10 NM_000083.2:c.1129C>T - r.(?) p.(Arg377*) - - - - - - - - - - - - - - - - - - -
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