Individual #00152636

ID_report -
Reference PubMed: Vuillaumier-Barrot 2011
Remarks -
Gender -
Consanguinity no
Country -
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases LIS
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

lissencephaly (LIS) (LIS)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000125565 lissencephaly, type II - 22w pregnancy termination because of reoccurrence severe quadriventricular hydrocephalus/cerebellar hypoplasia (like fetus F1); fetus dysmorphic features, horizontal narrow palpebral slit, bulging eyes, hypertrichosis cheeks/shoulders Isolated (sporadic) - <0d - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000153494 DNA;RNA arrayCGH;PCRq;RT-PCR;SEQ - - LARGE 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     

Codon change     

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     
22 Paternal (confirmed) +/. - pathogenic g.? - chr22.hg18:(32355377_32355629)_(32607493_32607638)dup - LARGE_000029 252 Kb duplication exon 2-4 PubMed: Vuillaumier-Barrot 2011 - - Germline - - - 0 - Johan den Dunnen LARGE - - - - - 1i_4i NM_004737.4:c.-145-(24848_24703)_409-(3319_3067)dup - c.(-145_408dup) p.? - - - - - - - - - - - - - - - - - - -
22 Maternal (confirmed) +/. - pathogenic g.33755643_33800775del g.33359657_33404789del 871+27358_1132-21850del42152insT - LARGE_000030 42 Kb deletion exon 9-10 PubMed: Vuillaumier-Barrot 2011 - - Germline - - - 0 - Johan den Dunnen LARGE - - - - - 8i_10i NM_004737.4:c.893-20485_1132-21856del - r.893_1131del p.Val299Hisfs*30 - - - - - - - - - - - - - - - - - - -
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