Individual #00216233

ID_report -
Reference Wuyts, ASHG2004, P2691
Remarks inherited from mother, mosaic carrier
Gender -
Consanguinity -
Country Belgium
Population -
Age at death >5m
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases HGPS
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

syndrome, Hutchinson-Gilford progeria (HGPS) (HGPS)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000164685 - Hutchinson-Gilford progeria syndrome HGPS Unknown - - 0y - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000217302 DNA SEQ - - LMNA 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     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

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     
1 Maternal (confirmed) +/. - pathogenic g.156108404C>T g.156138613C>T HGVS [=/1824C>T] - LMNA_000076 1/10 leukocyte and buccal swab, not in fibroblasts and hair roots Wuyts, ASHG2004, P2691 - - Germline - - - 0 - Johan den Dunnen LMNA - - - - - 11 NM_170707.3:c.1824C>T - r.(spl?) p.(?) - - - - - - - - - - - - - - - - - - - -
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