Individual #00024928

ID_report -
Reference PubMed: Kvarnung 2013
Remarks 5-generation family, 4-affecteds (4F), unaffected heterozygous carrier relatives
Gender -
Consanguinity yes
Country Turkey
Population Aramaic
Age at death -
VIP -
Data_av -
Treatment -
Panel size 4
Diseases ID
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 2014-11-21 16:53:58 +01:00 (CET)
Date last edited N/A


Phenotypes

intellectual disability (ID) (ID)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Phenotype details     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000021044 - - Familial, autosomal recessive see paper, detailed description; incl. distinct facial features, hypotonia, seizures, abnormal skeletal,endocrine and ophthalmologic findings - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000024923 DNA SEQ;SEQ-NG - - PIGT, TUBB1 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     

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Re-site     

VIP     

Methylation     

Owner     

Gene     

IDbase Accession Number     

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Exon     

DNA change (cDNA)     

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RNA change     

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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     
20 Both (homozygous) +/. - pathogenic g.44047988A>C g.45419348A>C - - PIGT_000001 causality supported by functional experiments with morpholino/zebra fish KO and co-injection rescue of wt/variant mRNA PubMed: Kvarnung 2013 - rs587777027 Germline yes - - - - Philippe Campeau PIGT - - - - 4 NM_015937.5:c.547A>C - r.(?) p.(Thr183Pro) - - - - - - - - - - - - - -
20 Both (homozygous) -?/? - likely benign g.57599407C>T g.59024352C>T - - TUBB1_000001 variant predicted damaging but unlikely to cause phenotype since TUBB1 variants cause macrothrombocytopenia of which the patients showed no signs PubMed: Kvarnung 2013 - - Germline yes - - - - Johan den Dunnen TUBB1 - - - - 4 NM_030773.3:c.925C>T - r.(?) p.(Arg309Cys) - - - - - - - - - - - - - -
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