Individual #00386936

ID_report -
Reference PubMed: Beunders 2013
Remarks -
Gender F
Consanguinity -
Country -
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases MRD26
Owner name Alexander Groffen
Database submission license Creative Commons Attribution-ShareAlike 4.0 InternationalCreative Commons License
Created by Alexander Groffen
Date created 2021-10-27 15:46:53 +02:00 (CEST)
Date last edited N/A


Phenotypes

mental retardation, autosomal dominant, type 26 (MRD26) (MRD26)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

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Age/Diagnosis     

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Birth_Details     

Protein     

Owner     
0000280735 microcephaly, intellectual disability / developmental delay, proptosis, short palpebral fissures, narrow mouth, plachiocephaly, brachycephaly, facial asymmetry, prominent forehead, unilateral cleft lip, patent foramen ovale / atrial septum defect - - Familial, autosomal dominant 02y04m - - - - - Alexander Groffen



Screenings


AscendingScreening ID     

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Remarks     

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Variants found     

Owner     
0000388163 DNA arrayCGH - - - 1 Alexander Groffen



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     

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Reference     

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VIP     

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Owner     

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IDbase Accession Number     

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Exon     

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P-domain     

Exon_old     

Function/GVS     

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Predict/MutationTaster     

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Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
7 Unknown +?/+? - likely pathogenic g.(69571110_69573462)_(69625402_69626627)del g.(70106124_70108476)_(70160416_70161641)del hg18, minimal del chr7:69,211,398-69,263,338, maximal chr7:69,209,046-69,264,563 - AUTS2_000129 - PubMed: Beunders 2013 - - Germline yes - - - - Alexander Groffen AUTS2 - - - - 2i_4i NM_015570.2:c.(523-12008_523-9656)_(660+25845_660+27070)del - r.? p.? - - - - - - - - - - - - - -
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