Individual #00114690

ID_report -
Reference PubMed: Willems 2009
Remarks Cafe au lait spots. Moyamoya disease complicated with rupture of CNS vessels.
Gender M
Consanguinity -
Country Algeria
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases MOPD2
Owner name Emmelien Aten
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

dwarfism, primordial, osteodysplastic, microcephalic type II (MOPD-2) (MOPD2)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

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Age/Examination     

Age/Diagnosis     

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Phenotype/Onset     

Protein     

Owner     
0000090172 Mild intellectual disability - - Unknown - - - - - Emmelien Aten



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000115147 DNA SEQ - - PCNT 1 Emmelien Aten



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)     

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ISCN     

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Exon     

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Exon_old     

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Predicted     

Type/DNA     

Conservation     

CpG     

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mRNA level     

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Legacy protein change     

Protein level     
21 Both (homozygous) +/? - pathogenic g.47783566_47783567del g.46363651_46363652del 2326_2327delGA - PCNT_000002 - PubMed: Willems 2009 - - Unknown - - - 0 - Emmelien Aten PCNT - - - - - 14 NM_006031.5:c.2326_2327del - r.(?) p.(Glu776Lysfs*3) - - - - - - - - - - - - - - - - - - -
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