Individual #00166699

ID_report -
Reference PubMed: Le Quesne Stabej 2012
Remarks Proband
Gender -
Consanguinity -
Country United Kingdom (Great Britain)
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases USH2
Owner name Maria Bitner-Glindzicz
Database submission license No license selected
Created by Maria Bitner-Glindzicz
Date created 2011-09-12 16:32:40 +02:00 (CEST)
Date last edited 2018-07-23 10:59:25 +02:00 (CEST)


Phenotypes

Usher syndrome, type II (USH-2) (USH2)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000131563 Usher syndrome - - Unknown - - - - - Maria Bitner-Glindzicz



Screenings


AscendingScreening ID     

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Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000167578 DNA SEQ - - - 6 Maria Bitner-Glindzicz



Variants

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

Gene     

IDbase Accession Number     

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Exon     

DNA change (cDNA)     

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Exon_old     

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Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
1 Maternal (confirmed) +/+ - pathogenic g.216270538G>A g.216097196G>A - - USH2A_000103 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - rs199679165 Germline - - -BstBI;-TaqI; - - Maria Bitner-Glindzicz USH2A - - - - 22 NM_206933.2:c.4645C>T - r.(?) p.(Arg1549*) Laminin G-like 1 (1517-1709) - - - - - - - - - - - - -
1 Unknown +/+ - pathogenic g.216595492G>A g.216422150G>A - - USH2A_000017 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - - Germline - - +AcuI - - Maria Bitner-Glindzicz USH2A - - - - 2 NM_206933.2:c.187C>T - r.(?) p.(Arg63*) - - - - - - - - - - - - - -
5 Unknown -/? ACMG likely benign g.90144736T>G g.90848919T>G - - GPR98_000084 heterozygous; pathogenicity not assessed PubMed: Le Quesne Stabej 2012 - rs76005709 Germline - 0/96 controls +MboII;-DdeI; - - Maria Bitner-Glindzicz GPR98 - - - - 79i NM_032119.3:c.17204+98T>G - r.(=) p.(=) - - - - - - - - - - - - - -
10 Unknown -/? ACMG likely benign g.73376938G>A g.71617181G>A - - CDH23_000286 heterozygous; pathogenicity not assessed PubMed: Le Quesne Stabej 2012 - rs80111574 Germline - 0/96 controls +BpmI;+BstNI;+PspGI;-MspI;-HpaII;-NciI; - - Maria Bitner-Glindzicz CDH23 - - - - 10i NM_022124.5:c.946-24G>A - r.(=) p.(=) - - - - - - - - - - - - - -
10 Unknown -/- - benign g.73466670C>T g.71706913C>T - - CDH23_000277 heterozygous; Neutral PubMed: Le Quesne Stabej 2012 - rs56216952 Germline - 6/874 controls -Hpy99I - - Maria Bitner-Glindzicz CDH23 - - - - 26 NM_022124.5:c.2970C>T - r.(?) p.(=) Cadherin 9 (891-995) - - - - - - - - - - - - -
11 Unknown -/- - benign g.76877475G>A g.77166429G>A - - MYO7A_000383 Heterozygous PubMed: Le Quesne Stabej 2012 - rs2276280 Germline - 0/96 controls none - - Maria Bitner-Glindzicz MYO7A - - - - 14i NM_000260.3:c.1797+267G>A - r.(=) p.(=) - - - - - - - - - - - - - -
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