Individual #00183137

ID_report 25644381-FamAU29
Reference PubMed: Hu 2016
Remarks family, 2 affected, 1 unaffected heterozygous carrier female
Gender M
Consanguinity -
Country -
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 2
Diseases MRX
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 2018-10-14 12:07:53 +02:00 (CEST)
Date last edited N/A


Phenotypes

mental retardation, X-linked (MRX, intellectual disability (IDX)) (MRX;IDX)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

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Age/Examination     

Age/Diagnosis     

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Phenotype/Onset     

Birth_Details     

Protein     

Owner     
0000143891 - mental retardation - Familial, X-linked recessive - - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

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Tissue     

Remarks     

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Variants found     

Owner     
0000184095 DNA SEQ;SEQ-NG - WES-X chromosome MECP2 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     

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IDbase Accession Number     

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Exon_old     

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Predicted     

Type/DNA     

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Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
X Maternal (confirmed) +/. - pathogenic g.152710806_153609906dup - MECP2 - MECP2_002820 - PubMed: Hu 2016 - - Germline yes - - - - Johan den Dunnen ABCD1, ARHGAP4, ATP2B3, AVPR2, BCAP31, BGN, DUSP9, EMD, FAM58A, FLNA, HAUS7, HCFC1, IDH3G, IRAK1, L1CAM, MECP2, MIR3202-1, MIR3202-2, MIR718, NAA10, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNB3, PNCK, RENBP, SLC6A8, SRPK3, SSR4, TEX28, TKTL1, TMEM187, TREX2 - - - - - NM_000033.3:c.-279916_*600717dup, NM_001666.4:c.-418250_*462377dup, NM_021949.3:c.-90900_*764445dup, NM_000054.4:c.-459794_*437724dup, NM_001256447.1:c.-620162_*255586dup, NM_001711.4:c.-49777_*836003dup, NM_001395.2:c.-197295_*694146dup, NM_000117.2:c.-897039_*349dup, NM_152274.3:c.-745377_*143017dup, NM_001110556.1:c.-7149_*866411dup, NM_017518.6:c.-873861_*2530dup, NM_005334.2:c.-373615_*503992dup, NM_004135.3:c.-550125_*340521dup, NM_001569.3:c.-324643_*566504dup, NM_000425.4:c.-468615_*417312dup, NM_001110792.1:c.-246784_*585012dup, NM_004992.3:c.-246944_*585012dup, NR_036174.1:n.-535742_*363278dup, NR_036175.1:n.-363279_*535743dup, NR_031757.1:n.-324466_*574565dup, NM_003491.3:c.-409549_*484634dup, NM_020061.4:c.-698952_*185505dup, NM_000513.2:c.-737361_*148375dup, NM_001048181.2:c.-774479_*111257dup, NM_032512.2:c.-514153_*358002dup, NM_005393.2:c.-319019_*565412dup, NM_001039582.3:c.-670276_*224787dup, NM_002910.5:c.-399844_*489933dup, NM_005629.3:c.-243224_*649237dup, NM_014370.3:c.-335736_*558931dup, NM_006280.2:c.-349337_*546018dup, NM_001586.2:c.-86612_*788274dup, NM_012253.3:c.-813407_*51868dup, NM_003492.2:c.-527719_*361607dup, NM_080701.3:c.-898505_83dup - r.0?, , r.? p.0?, -, p.? - - - - - - - - - - - - - -
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