Individual #00095104

ID_report -
Reference PubMed: Reinstein 2013, Journal: Reinstein 2013
Remarks 2-generation family, isolated case, heterozygous carrier mother with mild joint hypermobility (Beighton score 4/8) and no neurological symptomatology
Gender M
Consanguinity -
Country -
Population -
Age at death -
VIP 0
Data_av added by student Rosa van Ewijk
Treatment -
Panel size 2
Diseases EDS
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

Ehlers-Danlos syndrome (EDS) (EDS)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Age/Examination     

Diagnosis/Definite     

Age/Onset     

Phenotype/Onset     

Phenotype details     

Hearing/Loss     

Protein     

Age/Diagnosis     

CK-level     

Muscle/Biopsy     

EMG     

Owner     
0000073497 - Familial, X-linked recessive - - 05y - pectus carinatum(HP0000768) scoliosis (HP0002650) mitral valve prolaps (HP0001634) aortic dilatation (HP0001724) soft skin (HP0000977) spontaneous pneumothorax (HP0002108) diaphragmatic eventration (HP0009110) - - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000095502 DNA SEQ;SEQ-NG - - FLNA 1 Johan den Dunnen



Variants

1 entry on 1 page. Showing entry 1.
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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     

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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     
X Maternal (confirmed) +/. - pathogenic g.153596451C>G g.154368083C>G - - FLNA_000111 mother carrier of de novo variant PubMed: Reinstein 2013, Journal: Reinstein 2013 - - De novo - - - 0 - Johan den Dunnen FLNA - - - - 3 NM_001110556.1:c.381G>C - r.(?) p.(Lys127Asn) - - - - - - - - - - - - - - - - - - -
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