Individual #00399091

ID_report P174
Reference PubMed: Gonzalez-Quereda 2020
Remarks patient
Gender M
Consanguinity -
Country Spain
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases NMD
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

neuromuscular disorder (NMD) (NMD)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Owner     
0000292179 congenital myopathy - serum CK <200 U/L; muscle biopsy yype 1 fiber predominance; arthrogryposis Unknown - - <0d - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000400336 DNA SEQ;SEQ-NG - 166-gene panel - 2 Johan den Dunnen



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     
2 Parent #2 +?/. - likely pathogenic g.175622726C>T g.174757998C>T - - CHRNA1_000076 - PubMed: Gonzalez-Quereda 2020 - - Germline - - - 0 - Johan den Dunnen CHRNA1 - - - - - NM_001039523.2:c.257G>A - r.(?) p.(Arg86His) - - - - - - - - - - - - - - - - - - -
2 Parent #1 +?/. - likely pathogenic g.175624286C>T g.174759558C>T - - CHRNA1_000077 - PubMed: Gonzalez-Quereda 2020 - - Germline - - - 0 - Johan den Dunnen CHRNA1 - - - - - NM_001039523.2:c.119G>A - r.(?) p.(Arg40Gln) - - - - - - - - - - - - - - - - - - -
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