Individual #00059054

ID_report -
Reference Karen Avraham laboratory, Tel Aviv university, Israel, unpublished
Remarks -
Gender -
Consanguinity yes
Country Israel
Population Arab
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 2
Diseases USH-2A
Owner name Zippi Brownstein


Phenotypes

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

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

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Protein     

Owner     
0000045644 high tone HL, no vision problems yet - - Familial, autosomal recessive - - - - - Zippi Brownstein



Screenings


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Genes screened     

Variants found     

Owner     
0000059020 DNA SEQ-NG-I blood - - 1 Zippi Brownstein



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

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Exon     

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ClassClinical     

RNA change     

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Exon_old     

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Predicted     

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CpG     

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Protein level     
1 Both (homozygous) +/. g.215987132del g.215813790delC - - USH2A_001106 - - - - Germline yes - - 0 - Zippi Brownstein USH2A - - - - - 49 NM_206933.2:c.9685del - pathogenic r.(?) p.(Glu3229Argfs*72) - - - - - - - - - - - - - - - - - - -
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