Individual #00108444

ID_report -
Reference PubMed: Gunnarsson 2010
Remarks -
Gender F
Consanguinity -
Country Sweden
Population white
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases del 3pterp25
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2012-04-15 15:58:24 +02:00 (CEST)
Date last edited 2022-01-21 16:48:53 +01:00 (CET)


Phenotypes

chromosome deletion syndrome 3pter-p25 (del 3pterp25)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000086038 congenital heart defect, autistic, mental retardation; hypertelorism, ptosis, flat/broad nasal root, long philtrum, downturned corner mouth, low set ears, bilateral overlap 2nd/4th toes over 3rd/5th toes, hypotonic - - Isolated (sporadic) - 0d - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000108912 DNA arraySNP - - CAV3 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     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

Function/GVS     

Predict/AGVGD     

Predict/MutationTaster     

Predict/SIFT     

Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
3 Parent #1 +/. - pathogenic g.(?_8775486)_(8788451_?)del g.(?_8733800)_(8746765_?)del - - CAV3_000072 1.6 Mb deletion from LMCD1_CIDEC; de novo, in patient PubMed: Gunnarsson 2010 - - De novo - - - - - Johan den Dunnen CAV3 - - - - _1_2_ NM_033337.2:c.-77_*898{0} - r.0 p.0 - - - - - - - - - - - - - -
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