Full data view for gene USH2A


This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Information The variants shown are described using the NM_206933.2 transcript reference sequence.

88 entries on 1 page. Showing entries 1 - 88.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.13191G>A r.(?) p.(Glu4397=) - Unknown - benign g.215848062C>T g.215674720C>T - - USH2A_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Unknown - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Heterozygous PubMed: Baux 2007 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Unknown - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Heterozygous PubMed: Baux 2007 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA minigene, SEQ - - USH2 - PubMed: Baux 2007 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Parent #1 - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Heterozygous PubMed: Baux 2007 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Unknown - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Heterozygous PubMed: Baux 2007 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Unknown - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Heterozygous PubMed: Baux 2007 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Paternal (inferred) - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Homozygous PubMed: Baux 2007 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Maternal (inferred) - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Homozygous PubMed: Baux 2007 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Unknown - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Heterozygous PubMed: Baux 2007 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Unknown - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Heterozygous - - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - RPar - - Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Unknown - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Heterozygous PubMed: Aller 2006 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA minigene, SEQ - - USH2 - PubMed: Aller 2006 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Unknown - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Heterozygous PubMed: Aller 2004 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Aller 2004 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Unknown - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Heterozygous PubMed: Najera 2002 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Najera 2002 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Unknown - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Heterozygous; Neutral PubMed: Jaijo 2010 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ, SSCA - - USH2 - PubMed: Jaijo 2010 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Paternal (inferred) - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Homozygous PubMed: Aller 2006 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Aller 2006 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Maternal (inferred) - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Homozygous PubMed: Aller 2006 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Aller 2006 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Unknown - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Heterozygous PubMed: Baux 2014 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Paternal (confirmed) - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Heterozygous PubMed: Baux 2014 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Unknown - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Heterozygous PubMed: Baux 2014 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - Spain - - - - - 1 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Unknown - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Heterozygous PubMed: Baux 2014 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - Italy - - - - - 1 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Unknown - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Heterozygous PubMed: Baux 2014 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Unknown - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Heterozygous PubMed: Vaché 2012 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Vaché 2012 Proband F - Italy - - - - - 1 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Paternal (inferred) - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Homozygous PubMed: Baux 2014 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - Spain - - - - - 1 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Maternal (inferred) - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Homozygous PubMed: Baux 2014 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - Spain - - - - - 1 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Unknown - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Heterozygous PubMed: Le Guédard-Méreuze 2010 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA minigene, SEQ - - USH2 - PubMed: Le Guédard-Méreuze 2010 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Unknown - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Heterozygous - - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA, RNA RT-PCR, SEQ - - USH2 - - Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Unknown - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Heterozygous PubMed: Baux 2014 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Unknown - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Heterozygous PubMed: Baux 2014 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - - - - - - - 1 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Unknown - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Heterozygous PubMed: Baux 2014 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Unknown - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Heterozygous PubMed: Baux 2014 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Unknown - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Heterozygous PubMed: Baux 2014 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Paternal (inferred) - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Homozygous PubMed: Baux 2014 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Maternal (inferred) - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Homozygous PubMed: Baux 2014 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Unknown - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Heterozygous PubMed: Baux 2014 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Unknown - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Heterozygous PubMed: Le Guédard-Méreuze 2010 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA minigene, SEQ - - USH2 - PubMed: Le Guédard-Méreuze 2010 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Unknown - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Heterozygous PubMed: Baux 2014 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Unknown - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Heterozygous PubMed: Baux 2014 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Paternal (inferred) - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Homozygous PubMed: Baux 2014 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Maternal (inferred) - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Homozygous PubMed: Baux 2014 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Unknown - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Heterozygous PubMed: Baux 2014 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Paternal (inferred) - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Homozygous PubMed: Baux 2014 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Maternal (inferred) - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Homozygous PubMed: Baux 2014 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Unknown - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Heterozygous; Neutral PubMed: Garcia-Garcia 2011 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Unknown - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Heterozygous; Neutral PubMed: Garcia-Garcia 2011 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Paternal (confirmed) - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Heterozygous PubMed: Baux 2014 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - Denmark - - - - - 1 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Paternal (inferred) - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Homozygous; polymorphism PubMed: McGee 2010 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: McGee 2010 Proband - No genotype in the publication for polymorphisms - - United States - - - - - 6 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Maternal (inferred) - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Homozygous; polymorphism PubMed: McGee 2010 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: McGee 2010 Proband - No genotype in the publication for polymorphisms - - United States - - - - - 6 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Unknown - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Heterozygous; polymorphism PubMed: McGee 2010 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: McGee 2010 Proband - No genotype in the publication for polymorphisms - - United States - - - - - 24 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Paternal (inferred) - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Homozygous; polymorphism PubMed: McGee 2010 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - RPar - PubMed: McGee 2010 Proband - No genotype in the publication for polymorphisms - - United States - - - - - 6 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Maternal (inferred) - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Homozygous; polymorphism PubMed: McGee 2010 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - RPar - PubMed: McGee 2010 Proband - No genotype in the publication for polymorphisms - - United States - - - - - 6 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Unknown - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Heterozygous; polymorphism PubMed: McGee 2010 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - RPar - PubMed: McGee 2010 Proband - No genotype in the publication for polymorphisms - - United States - - - - - 17 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Paternal (inferred) - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Homozygous PubMed: Baux 2014 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Maternal (inferred) - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Homozygous PubMed: Baux 2014 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Unknown - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Heterozygous PubMed: Vaché 2012 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA, RNA RT-PCR, SEQ - - USH2 - PubMed: Vaché 2012 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Unknown - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Heterozygous PubMed: Vaché 2012 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Vaché 2012 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Unknown - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Heterozygous PubMed: Vaché 2012 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Vaché 2012 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Unknown - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Heterozygous PubMed: Vaché 2012 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Vaché 2012 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Unknown - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Heterozygous PubMed: Vaché 2012 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Vaché 2012 Proband F - France - - - - - 1 Jose Maria Millan
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Paternal (inferred) - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Homozygous; Neutral PubMed: Garcia-Garcia 2011 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Maternal (inferred) - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Homozygous; Neutral PubMed: Garcia-Garcia 2011 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Unknown - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Heterozygous; Neutral PubMed: Garcia-Garcia 2011 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Unknown - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Heterozygous; Neutral PubMed: Garcia-Garcia 2011 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Unknown - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Heterozygous; Neutral PubMed: Jaijo 2010 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Jaijo 2010 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Unknown - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Heterozygous; Neutral PubMed: Garcia-Garcia 2011 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Unknown - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Heterozygous; Neutral PubMed: Garcia-Garcia 2011 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Unknown - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Heterozygous PubMed: Baux 2014 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA arrayCGH, SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Paternal (inferred) - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Homozygous PubMed: Baux 2014 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - ? - PubMed: Baux 2014 Proband F - United Kingdom (Great Britain) - - - - - 1 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Maternal (inferred) - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Homozygous PubMed: Baux 2014 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - ? - PubMed: Baux 2014 Proband F - United Kingdom (Great Britain) - - - - - 1 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Unknown - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Heterozygous PubMed: Baux 2014 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - Portugal - - - - - 1 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Paternal (inferred) - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Homozygous PubMed: Baux 2014 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Maternal (inferred) - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Homozygous PubMed: Baux 2014 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Unknown - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Heterozygous PubMed: Baux 2014 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Unknown - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Heterozygous - - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA minigene, SEQ, SEQ-NG-S - - USH2 - Liquori accepted Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Unknown - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Heterozygous PubMed: Besnard, Garcia-Garcia 2014 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Besnard, Garcia-Garcia 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Unknown - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Heterozygous PubMed: Baux 2014 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Paternal (inferred) - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Homozygous PubMed: Baux 2014 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Maternal (inferred) - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Homozygous PubMed: Baux 2014 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Unknown - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Heterozygous PubMed: Baux 2014 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Unknown - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Heterozygous PubMed: Baux 2014 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Unknown - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Heterozygous PubMed: Baux 2014 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Unknown - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Heterozygous PubMed: Baux 2014 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA arrayCGH, SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Paternal (inferred) - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Homozygous PubMed: Baux 2014 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Maternal (inferred) - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Homozygous PubMed: Baux 2014 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Unknown - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Heterozygous PubMed: Baux 2014 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH3 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Unknown - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Heterozygous PubMed: Baux 2014 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH3 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Unknown - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Heterozygous PubMed: Baux 2014 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Unknown - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Heterozygous PubMed: Baux 2014 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 63 c.13191G>A r.(?) p.(=) Fibronectin type-III 29 (4356-4439) Unknown - benign g.215848062C>T g.215674720C>T - - USH2A_000027 Heterozygous PubMed: Baux 2014 - rs2009923 Germline - - +TfiI;-BsmFI;-MlyI;-PleI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
Legend   How to query  

All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.