Individual #00177082

ID_report 73450
Reference -
Remarks mother German, father Swiss/Ghanaian
Gender M
Consanguinity no
Country Germany;Ghana;Switzerland
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases EE
Owner name Anaïs Begemann


Phenotypes

encephalopathy, epileptic (EE) (EE)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

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Phenotype/Onset     

Protein     

Owner     
0000141877 HP:0008936 HP:0002066 HP:0011220 HP:0008070 HP:0002761 HP:0001763 - - Unknown - - 02y - - Anaïs Begemann



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000177978 DNA SEQ-NG-I blood WES - 6 Anaïs Begemann



Variants

6 entries on 1 page. Showing entries 1 - 6.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

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Segregation     

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IDbase Accession Number     

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Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

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Exon_old     

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Predict/AGVGD     

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Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
12 Both (homozygous) -?/. g.52760957C>T - - - KRT85_000004 - Papuc et al., submitted - rs61630004 Germline - - - 0 - Anaïs Begemann KRT85 - - - - - - NM_002283.3:c.233G>A - - r.(?) p.(Arg78His) - - - - - - - - - - - - - - - - - - -
17 Maternal (confirmed) ?/. g.7605740A>G - - - WRAP53_000022 - Papuc et al., submitted - rs778192810 Germline - - - 0 - Anaïs Begemann WRAP53 - - - - - - NM_001143992.1:c.1034A>G - - r.(?) p.(Tyr345Cys) - - - - - - - - - - - - - - - - - - -
17 Paternal (confirmed) ?/. g.7606345G>A - - - WRAP53_000004 - Papuc et al., submitted - - Germline - - - 0 - Anaïs Begemann WRAP53 - - - - - - NM_001143992.1:c.1303G>A - - r.(?) p.(Gly435Arg) - - - - - - - - - - - - - - - - - - -
17 Paternal (confirmed) +/. g.56355397G>A - - - MPO_000007 - Papuc et al., submitted - rs28730837 Germline - - - 0 - Anaïs Begemann MPO - - - - - - NM_000250.1:c.995C>T - - r.(?) p.(Ala332Val) - - - - - - - - - - - - - - - - - - -
17 Maternal (confirmed) +/. g.56356502A>G - - - MPO_000012 - Papuc et al., submitted - rs56378716 Germline - - - 0 - Anaïs Begemann MPO - - - - - - NM_000250.1:c.752T>C - - r.(?) p.(Met251Thr) - - - - - - - - - - - - - - - - - - -
18 Unknown +/. g.19437118_19437119del - - - MIB1_000069 - Papuc et al., submitted - - De novo - - - 0 - Anaïs Begemann MIB1 - - - - - - NM_020774.3:c.2693_2694del - - r.(?) p.(Val898Alafs*7) - - - - - - - - - - - - - - - - - - -
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