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.

258 entries on 3 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »

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.11864G>A r.(?) p.(Trp3955Ter) - Unknown - pathogenic g.215901574C>T g.215728232C>T USH2A(NM_206933.2):c.11864G>A (p.W3955*) - USH2A_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.11864G>A r.(?) p.(Trp3955Ter) - Unknown - pathogenic g.215901574C>T g.215728232C>T USH2A(NM_206933.2):c.11864G>A (p.W3955*) - USH2A_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Maternal (confirmed) - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - rs111033364 Germline - 2/864 controls +SfcI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Unknown - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous; Mutation PubMed: Vozzi 2011 - rs111033364 Germline - - +SfcI - - DNA PE, SEQ - APEX USH2 - PubMed: Vozzi 2011 Proband - - Italy - - - - - 1 Anne-Françoise Roux
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Parent #2 - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous PubMed: Van Wijk 2004 - rs111033364 Germline - 0/188 controls +SfcI - - DNA SEQ - - USH2 - PubMed: Van Wijk 2004 Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Parent #2 - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous PubMed: Van Wijk 2004 - rs111033364 Germline - 0/188 controls +SfcI - - DNA SEQ - - USH2 - PubMed: Van Wijk 2004 Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Unknown - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous PubMed: Jaijo 2010 - rs111033364 Germline - - +SfcI - - DNA SEQ - - USH2 - PubMed: Jaijo 2010 Proband - - Spain - - - - - 1 Jose Maria Millan
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Parent #2 - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous PubMed: Seyedahmadi 2004 - rs111033364 Germline - - +SfcI - - DNA SEQ - - USH2 - PubMed: Seyedahmadi 2004 Proband - Genotype deduced from Sandberg et al., 2008 - - United States - - - - - 1 Anne-Françoise Roux
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Parent #2 - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous PubMed: Seyedahmadi 2004 - rs111033364 Germline - - +SfcI - - DNA SEQ - - USH2 - PubMed: Seyedahmadi 2004 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Parent #2 - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous PubMed: Herrera 2008 - rs111033364 Germline - - +SfcI - - DNA SEQ - - RPar - PubMed: Herrera 2008 Proband M - - - - - - - 1 Anne-Françoise Roux
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Parent #2 - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous PubMed: Yan 2009 - rs111033364 Germline - - +SfcI - - DNA SEQ - - USH2 - PubMed: Yan 2009 Proband F - United States - - - - - 1 Anne-Françoise Roux
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Parent #1 - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous PubMed: Baux 2014 - rs111033364 Germline - - +SfcI - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - Italy - - - - - 1 Anne-Françoise Roux
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Paternal (confirmed) - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous PubMed: Baux 2014 - rs111033364 Germline - - +SfcI - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Paternal (confirmed) - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous PubMed: Baux 2014 - rs111033364 Germline - - +SfcI - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband - - France - - - - - 1 Anne-Françoise Roux
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Unknown - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous PubMed: Sandberg 2008 - rs111033364 Germline - - +SfcI - - DNA SEQ - - RPar - PubMed: Sandberg 2008 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Unknown - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous PubMed: McGee 2010 - rs111033364 Germline - - +SfcI - - DNA SEQ - - USH2 - PubMed: McGee 2010 No genotype in the publication - - United States - - - - - 4 Anne-Françoise Roux
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Parent #1 - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous PubMed: Bonnet 2011 - rs111033364 Germline - - +SfcI - - DNA SEQ - - USH2 - PubMed: Bonnet 2011 Proband - - - - - - - - 1 Anne-Françoise Roux
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Unknown - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous; Mutation PubMed: Vozzi 2011 - rs111033364 Germline - 0/188 controls +SfcI - - DNA PE, SEQ - APEX USH2 - PubMed: Vozzi 2011 Proband - - Italy - - - - - 1 Anne-Françoise Roux
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Parent #2 - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous; Mutation PubMed: Vozzi 2011 - rs111033364 Germline - - +SfcI - - DNA PE, SEQ - APEX USH2 - PubMed: Vozzi 2011 Proband - - Italy - - - - - 1 Anne-Françoise Roux
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Paternal (confirmed) - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous PubMed: Besnard, Garcia-Garcia 2014 - rs111033364 Germline - - +SfcI - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Besnard, Garcia-Garcia 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Unknown - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous PubMed: Baux 2014 - rs111033364 Germline - - +SfcI - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Paternal (inferred) - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Homozygous PubMed: Besnard, Garcia-Garcia 2014 - rs111033364 Germline - - +SfcI - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Besnard, Garcia-Garcia 2014 Proband - - Spain - - - - - 1 Anne-Françoise Roux
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Maternal (inferred) - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Homozygous PubMed: Besnard, Garcia-Garcia 2014 - rs111033364 Germline - - +SfcI - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Besnard, Garcia-Garcia 2014 Proband - - Spain - - - - - 1 Anne-Françoise Roux
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Unknown - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous; likely pathogenic PubMed: Glöckle 2014 - rs111033364 Germline - - +SfcI - - DNA SEQ, SEQ-NG-S - - RPar - PubMed: Glöckle 2014 Proband - - - - - - - - 1 Anne-Françoise Roux
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Unknown - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous; likely pathogenic PubMed: Glöckle 2014 - rs111033364 Germline - - +SfcI - - DNA SEQ, SEQ-NG-S - - RPar - PubMed: Glöckle 2014 Proband - - - - - - - - 1 Anne-Françoise Roux
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Unknown - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous; likely pathogenic PubMed: Glöckle 2014 - rs111033364 Germline - - +SfcI - - DNA SEQ, SEQ-NG-S - - RPar - PubMed: Glöckle 2014 Proband - - - - - - - - 1 Anne-Françoise Roux
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Unknown - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous; mutation PubMed: Krawitz 2014 - rs111033364 Germline - - +SfcI - - DNA MLPA, SEQ-NG-S - - USH2 - PubMed: Krawitz 2014 Proband M - Germany - - - - - 1 Peter Krawitz
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Unknown - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous; mutation PubMed: Krawitz 2014 - rs111033364 Germline - - +SfcI - - DNA SEQ-NG-S - - USH2 - PubMed: Krawitz 2014 Proband M - Germany - - - - - 1 Peter Krawitz
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Unknown - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous; mutation PubMed: Krawitz 2014 - rs111033364 Germline - - +SfcI - - DNA SEQ-NG-S - - USH2 - PubMed: Krawitz 2014 Proband M - Germany - - - - - 1 Peter Krawitz
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Unknown - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous; mutation PubMed: Krawitz 2014 - rs111033364 Germline - - +SfcI - - DNA MLPA, SEQ-NG-S - - USH2 - PubMed: Krawitz 2014 Proband M - Germany - - - - - 1 Peter Krawitz
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Unknown - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous; mutation PubMed: Krawitz 2014 - rs111033364 Germline - - +SfcI - - DNA SEQ-NG-S - - USH2 - PubMed: Krawitz 2014 Proband M - Germany - - - - - 1 Peter Krawitz
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Unknown - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous; mutation PubMed: Krawitz 2014 - rs111033364 Germline - - +SfcI - - DNA SEQ-NG-S - - USH2 - PubMed: Krawitz 2014 Proband M - Germany - - - - - 1 Peter Krawitz
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Unknown - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous; mutation PubMed: Krawitz 2014 - rs111033364 Germline - - +SfcI - - DNA SEQ-NG-S - - USH2 - PubMed: Krawitz 2014 Proband M - Germany - - - - - 1 Peter Krawitz
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Unknown - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous; mutation PubMed: Krawitz 2014 - rs111033364 Germline - - +SfcI - - DNA SEQ-NG-S - - USH2 - PubMed: Krawitz 2014 Proband M - Germany - - - - - 1 Peter Krawitz
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Unknown - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous; mutation PubMed: Krawitz 2014 - rs111033364 Germline - - +SfcI - - DNA SEQ-NG-S - - USH2 - PubMed: Krawitz 2014 Proband F - Germany - - - - - 1 Peter Krawitz
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Unknown - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous PubMed: Lenassi 2015 - rs111033364 Germline - - +SfcI - - DNA SEQ, SEQ-NG-S - - RPar - PubMed: Lenassi 2015 Proband - - Canada - - - - - 1 Eva Lenassi
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Parent #1 - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous PubMed: Sodi 2014 - rs111033364 Germline - - +SfcI - - DNA SEQ - - USH2 - PubMed: Sodi 2014 Proband - - Italy - - - - - 1 Anne-Françoise Roux
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Unknown - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous; Pathogenic PubMed: Lenarduzzi 2015 - rs111033364 Germline - - +SfcI - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Lenarduzzi 2015 Proband - - Italy - - - - - 1 Anne-Françoise Roux
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Paternal (confirmed) - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Homozygous; Pathogenic PubMed: Lenarduzzi 2015 - rs111033364 Germline - - +SfcI - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Lenarduzzi 2015 Proband - - Italy - - - - - 1 Anne-Françoise Roux
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Maternal (confirmed) - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Homozygous; Pathogenic PubMed: Lenarduzzi 2015 - rs111033364 Germline - - +SfcI - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Lenarduzzi 2015 Proband - - Italy - - - - - 1 Anne-Françoise Roux
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Paternal (inferred) - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Homozygous; mutation PubMed: Bonnet 2016 - rs111033364 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband F - Germany - - - - - 1 Crystel Bonnet
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Maternal (inferred) - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Homozygous; mutation PubMed: Bonnet 2016 - rs111033364 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband F - Germany - - - - - 1 Crystel Bonnet
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Parent #1 - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous; mutation PubMed: Bonnet 2016 - rs111033364 Germline - - - - - DNA SEQ, SEQ-NG-S, PCRq - - USH2 - PubMed: Bonnet 2016 Proband - - Germany - - - - - 1 Crystel Bonnet
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Parent #1 - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous; mutation PubMed: Bonnet 2016 - rs111033364 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Germany - - - - - 1 Crystel Bonnet
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Parent #1 - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous; mutation PubMed: Bonnet 2016 - rs111033364 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Germany - - - - - 1 Crystel Bonnet
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Parent #1 - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous; mutation PubMed: Bonnet 2016 - rs111033364 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Germany - - - - - 1 Crystel Bonnet
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Parent #1 - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous; mutation PubMed: Bonnet 2016 - rs111033364 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband M - Germany - - - - - 1 Crystel Bonnet
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Parent #2 - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous; mutation PubMed: Bonnet 2016 - rs111033364 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband F - Germany - - - - - 1 Crystel Bonnet
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Parent #1 - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous; mutation PubMed: Bonnet 2016 - rs111033364 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband M - Germany - - - - - 1 Crystel Bonnet
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Parent #1 - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous; mutation PubMed: Bonnet 2016 - rs111033364 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband F - Germany - - - - - 1 Crystel Bonnet
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Parent #1 - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous; mutation PubMed: Bonnet 2016 - rs111033364 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband M - Germany - - - - - 1 Crystel Bonnet
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Parent #1 - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous; mutation PubMed: Bonnet 2016 - rs111033364 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Germany - - - - - 1 Crystel Bonnet
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Parent #2 - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous; mutation PubMed: Bonnet 2016 - rs111033364 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - France - - - - - 1 Crystel Bonnet
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Parent #2 - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous; mutation PubMed: Bonnet 2016 - rs111033364 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - France - - - - - 1 Crystel Bonnet
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Parent #1 - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous; mutation PubMed: Bonnet 2016 - rs111033364 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - France - - - - - 1 Crystel Bonnet
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Parent #1 - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous; mutation PubMed: Bonnet 2016 - rs111033364 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - France - - - - - 1 Crystel Bonnet
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Parent #1 - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous; mutation PubMed: Bonnet 2016 - rs111033364 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband F - France - - - - - 1 Crystel Bonnet
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Unknown - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous; mutation PubMed: Bonnet 2016 - rs111033364 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - France - - - - - 1 Crystel Bonnet
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Parent #1 - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous; mutation PubMed: Bonnet 2016 - rs111033364 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband M - Italy - - - - - 1 Crystel Bonnet
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Parent #2 - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous; mutation PubMed: Bonnet 2016 - rs111033364 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband F - Italy - - - - - 1 Crystel Bonnet
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Parent #1 - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous; mutation PubMed: Bonnet 2016 - rs111033364 Germline - - - - - DNA SEQ, SEQ-NG-S, PCRq, arrayCGH - - USH2 - PubMed: Bonnet 2016 Proband M - Italy - - - - - 1 Crystel Bonnet
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Parent #1 - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous; mutation PubMed: Bonnet 2016 - rs111033364 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband M - Italy - - - - - 1 Crystel Bonnet
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Paternal (inferred) - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Homozygous; mutation PubMed: Bonnet 2016 - rs111033364 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Slovenia - - - - - 1 Crystel Bonnet
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Maternal (inferred) - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Homozygous; mutation PubMed: Bonnet 2016 - rs111033364 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Slovenia - - - - - 1 Crystel Bonnet
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Paternal (inferred) - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Homozygous; mutation PubMed: Bonnet 2016 - rs111033364 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Slovenia - - - - - 1 Crystel Bonnet
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Maternal (inferred) - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Homozygous; mutation PubMed: Bonnet 2016 - rs111033364 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Slovenia - - - - - 1 Crystel Bonnet
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Paternal (inferred) - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Homozygous; mutation PubMed: Bonnet 2016 - rs111033364 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Slovenia - - - - - 1 Crystel Bonnet
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Maternal (inferred) - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Homozygous; mutation PubMed: Bonnet 2016 - rs111033364 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Slovenia - - - - - 1 Crystel Bonnet
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Paternal (inferred) - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Homozygous; mutation PubMed: Bonnet 2016 - rs111033364 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Slovenia - - - - - 1 Crystel Bonnet
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Maternal (inferred) - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Homozygous; mutation PubMed: Bonnet 2016 - rs111033364 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Slovenia - - - - - 1 Crystel Bonnet
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Paternal (inferred) - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Homozygous; mutation PubMed: Bonnet 2016 - rs111033364 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Slovenia - - - - - 1 Crystel Bonnet
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Maternal (inferred) - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Homozygous; mutation PubMed: Bonnet 2016 - rs111033364 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Slovenia - - - - - 1 Crystel Bonnet
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Paternal (inferred) - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Homozygous; mutation PubMed: Bonnet 2016 - rs111033364 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Slovenia - - - - - 1 Crystel Bonnet
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Maternal (inferred) - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Homozygous; mutation PubMed: Bonnet 2016 - rs111033364 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Slovenia - - - - - 1 Crystel Bonnet
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Paternal (inferred) - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Homozygous; mutation PubMed: Bonnet 2016 - rs111033364 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Slovenia - - - - - 1 Crystel Bonnet
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Maternal (inferred) - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Homozygous; mutation PubMed: Bonnet 2016 - rs111033364 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Slovenia - - - - - 1 Crystel Bonnet
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Paternal (inferred) - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Homozygous; mutation PubMed: Bonnet 2016 - rs111033364 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Slovenia - - - - - 1 Crystel Bonnet
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Maternal (inferred) - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Homozygous; mutation PubMed: Bonnet 2016 - rs111033364 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Slovenia - - - - - 1 Crystel Bonnet
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Paternal (inferred) - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Homozygous; mutation PubMed: Bonnet 2016 - rs111033364 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Slovenia - - - - - 1 Crystel Bonnet
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Maternal (inferred) - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Homozygous; mutation PubMed: Bonnet 2016 - rs111033364 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Slovenia - - - - - 1 Crystel Bonnet
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Paternal (inferred) - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Homozygous; mutation PubMed: Bonnet 2016 - rs111033364 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Slovenia - - - - - 1 Crystel Bonnet
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Maternal (inferred) - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Homozygous; mutation PubMed: Bonnet 2016 - rs111033364 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Slovenia - - - - - 1 Crystel Bonnet
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Parent #1 - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous; mutation PubMed: Bonnet 2016 - rs111033364 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Slovenia - - - - - 1 Crystel Bonnet
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Parent #1 - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous; mutation PubMed: Bonnet 2016 - rs111033364 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Slovenia - - - - - 1 Crystel Bonnet
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Parent #1 - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous; mutation PubMed: Bonnet 2016 - rs111033364 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Slovenia - - - - - 1 Crystel Bonnet
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Parent #1 - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous; mutation PubMed: Bonnet 2016 - rs111033364 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Slovenia - - - - - 1 Crystel Bonnet
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Parent #1 - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous; mutation PubMed: Bonnet 2016 - rs111033364 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Slovenia - - - - - 1 Crystel Bonnet
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Parent #1 - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous; mutation PubMed: Bonnet 2016 - rs111033364 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Slovenia - - - - - 1 Crystel Bonnet
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Parent #1 - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous; mutation PubMed: Bonnet 2016 - rs111033364 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Slovenia - - - - - 1 Crystel Bonnet
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Parent #1 - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous; mutation PubMed: Bonnet 2016 - rs111033364 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Slovenia - - - - - 1 Crystel Bonnet
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Parent #1 - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous; mutation PubMed: Bonnet 2016 - rs111033364 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Slovenia - - - - - 1 Crystel Bonnet
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Parent #1 - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous; mutation PubMed: Bonnet 2016 - rs111033364 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Slovenia - - - - - 1 Crystel Bonnet
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Parent #1 - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous; mutation PubMed: Bonnet 2016 - rs111033364 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Slovenia - - - - - 1 Crystel Bonnet
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Parent #1 - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous; mutation PubMed: Bonnet 2016 - rs111033364 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Slovenia - - - - - 1 Crystel Bonnet
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Parent #1 - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous; mutation PubMed: Bonnet 2016 - rs111033364 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Slovenia - - - - - 1 Crystel Bonnet
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Parent #2 - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous; mutation PubMed: Bonnet 2016 - rs111033364 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Slovenia - - - - - 1 Crystel Bonnet
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Parent #2 - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous; mutation PubMed: Bonnet 2016 - rs111033364 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Slovenia - - - - - 1 Crystel Bonnet
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Parent #1 - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous; mutation PubMed: Bonnet 2016 - rs111033364 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Slovenia - - - - - 1 Crystel Bonnet
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Parent #1 - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous; mutation PubMed: Bonnet 2016 - rs111033364 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Slovenia - - - - - 1 Crystel Bonnet
+/+ 61 c.11864G>A r.(?) p.(Trp3955*) Fibronectin type-III 24 (3863-3960) Parent #1 - pathogenic g.215901574C>T g.215728232C>T - - USH2A_000159 Heterozygous; mutation PubMed: Bonnet 2016 - rs111033364 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Slovenia - - - - - 1 Crystel Bonnet
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »

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.