Individual #00155305

ID_report 24255041-F39
Reference PubMed: Mootha 2014
Remarks 3-generation family, 2 affecteds (F, M), 1 unaffected carrier
Gender F;M
Consanguinity no
Country United States
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 2
Diseases FECD
Owner name Johan den Dunnen


Phenotypes

dystrophy, corneal, Fuchs endothelial (FECD) (FECD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

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Protein     

Owner     
0000127804 see paper; … dystrophy, corneal, Fuchs endothelial FECD-3 Familial, autosomal dominant - - - - - Johan den Dunnen



Screenings


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Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000156169 DNA PCRrp - - TCF4 3 Johan den Dunnen



Variants

3 entries on 1 page. Showing entries 1 - 3.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

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Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

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Exon_old     

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Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
18 Parent #1 +/. g.53253330_5325347[ins(51_?)] - expanded >40 units - TCF4_000150 incomplete penetrance PubMed: Mootha 2014 - - Germline yes - - 0 - Johan den Dunnen TCF4 - - - - - 2i NM_001083962.1:c.72+804_73-747[ins(51_?)] GCT[>40] pathogenic (risk) r.(?) p.(?) - - - - - - - - - - - - - - - - - - -
18 Parent #2 -/. g.53253385_53253459AGC[12] - - - TCF4_000154 - PubMed: Mootha 2014 - - Germline no - - 0 - Johan den Dunnen TCF4 - - - - - 2i NM_001083962.1:c.72+817_73-802GCT[12] - benign r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
18 Parent #1 -/. g.53210302= g.55543071= rs613872 G - TCF4_000151 - PubMed: Mootha 2014 - rs613872 Germline - - - 0 - Johan den Dunnen TCF4 - - - - - 3i NM_001083962.1:c.145+42209= - benign r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
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