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.

39 entries on 1 page. Showing entries 1 - 39.
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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     
-/- 07i c.1328+37_1328+40del r.(=) p.(=) - Unknown - benign g.216497472_216497475del g.216324130_216324133del 1328+36_1328+39delGATT - USH2A_000141 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012 - - Germline - - +BsrI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 07i c.1328+37_1328+40del r.(=) p.(=) - Paternal (inferred) - benign g.216497472_216497475del g.216324130_216324133del 1328+36_1328+39delGATT - USH2A_000141 Homozygous; Neutral PubMed: Le Quesne Stabej 2012 - - Germline - - +BsrI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 07i c.1328+37_1328+40del r.(=) p.(=) - Maternal (inferred) - benign g.216497472_216497475del g.216324130_216324133del 1328+36_1328+39delGATT - USH2A_000141 Homozygous; Neutral PubMed: Le Quesne Stabej 2012 - - Germline - - +BsrI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 07i c.1328+37_1328+40del r.(=) p.(=) - Unknown - benign g.216497472_216497475del g.216324130_216324133del 1328+36_1328+39delGATT - USH2A_000141 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012 - - Germline - - +BsrI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 07i c.1328+37_1328+40del r.(=) p.(=) - Unknown - benign g.216497472_216497475del g.216324130_216324133del 1328+36_1328+39delGATT - USH2A_000141 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012 - - Germline - - +BsrI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 07i c.1328+37_1328+40del r.(=) p.(=) - Unknown - benign g.216497472_216497475del g.216324130_216324133del 1328+36_1328+39delGATT - USH2A_000141 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012 - - Germline - - +BsrI - - DNA SEQ - - USH1 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 07i c.1328+37_1328+40del r.(=) p.(=) - Paternal (inferred) - benign g.216497472_216497475del g.216324130_216324133del 1328+36_1328+39delGATT - USH2A_000141 Homozygous; Neutral PubMed: Le Quesne Stabej 2012 - - Germline - - +BsrI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 07i c.1328+37_1328+40del r.(=) p.(=) - Maternal (inferred) - benign g.216497472_216497475del g.216324130_216324133del 1328+36_1328+39delGATT - USH2A_000141 Homozygous; Neutral PubMed: Le Quesne Stabej 2012 - - Germline - - +BsrI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 07i c.1328+37_1328+40del r.(=) p.(=) - Unknown - benign g.216497472_216497475del g.216324130_216324133del 1328+36_1328+39delGATT - USH2A_000141 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012 - - Germline - - +BsrI - - DNA SEQ - - RPar - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 07i c.1328+37_1328+40del r.(=) p.(=) - Unknown - benign g.216497472_216497475del g.216324130_216324133del 1328+36_1328+39delGATT - USH2A_000141 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012 - - Germline - - +BsrI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 07i c.1328+37_1328+40del r.(=) p.(=) - Unknown - benign g.216497472_216497475del g.216324130_216324133del 1328+36_1328+39delGATT - USH2A_000141 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012 - - Germline - - +BsrI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 07i c.1328+37_1328+40del r.(=) p.(=) - Unknown - benign g.216497472_216497475del g.216324130_216324133del 1328+36_1328+39delGATT - USH2A_000141 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012 - - Germline - - +BsrI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 07i c.1328+37_1328+40del r.(=) p.(=) - Unknown - benign g.216497472_216497475del g.216324130_216324133del 1328+36_1328+39delGATT - USH2A_000141 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012 - - Germline - - +BsrI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 07i c.1328+37_1328+40del r.(=) p.(=) - Unknown - benign g.216497472_216497475del g.216324130_216324133del 1328+36_1328+39delGATT - USH2A_000141 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012 - - Germline - - +BsrI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 07i c.1328+37_1328+40del r.(=) p.(=) - Unknown - benign g.216497472_216497475del g.216324130_216324133del 1328+36_1328+39delGATT - USH2A_000141 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012 - - Germline - - +BsrI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 07i c.1328+37_1328+40del r.(=) p.(=) - Unknown - benign g.216497472_216497475del g.216324130_216324133del 1328+36_1328+39delGATT - USH2A_000141 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012 - - Germline - - +BsrI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 07i c.1328+37_1328+40del r.(=) p.(=) - Paternal (inferred) - benign g.216497472_216497475del g.216324130_216324133del 1328+36_1328+39delGATT - USH2A_000141 Homozygous; Neutral PubMed: Le Quesne Stabej 2012 - - Germline - - +BsrI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 07i c.1328+37_1328+40del r.(=) p.(=) - Maternal (inferred) - benign g.216497472_216497475del g.216324130_216324133del 1328+36_1328+39delGATT - USH2A_000141 Homozygous; Neutral PubMed: Le Quesne Stabej 2012 - - Germline - - +BsrI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 07i c.1328+37_1328+40del r.(=) p.(=) - Unknown - benign g.216497472_216497475del g.216324130_216324133del 1328+36_1328+39delGATT - USH2A_000141 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012 - - Germline - - +BsrI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 07i c.1328+37_1328+40del r.(=) p.(=) - Unknown - benign g.216497472_216497475del g.216324130_216324133del 1328+36_1328+39delGATT - USH2A_000141 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012 - - Germline - - +BsrI - - DNA SEQ - - USH3 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 07i c.1328+37_1328+40del r.(=) p.(=) - Unknown - benign g.216497472_216497475del g.216324130_216324133del 1328+36_1328+39delGATT - USH2A_000141 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012 - - Germline - - +BsrI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 07i c.1328+37_1328+40del r.(=) p.(=) - Unknown - benign g.216497472_216497475del g.216324130_216324133del 1328+36_1328+39delGATT - USH2A_000141 Heterozygous; Neutral PubMed: Saihan 2011 - - Germline - - +BsrI - - DNA SEQ - - retinal disease - PubMed: Saihan 2011 Proband F - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 07i c.1328+37_1328+40del r.(=) p.(=) - Unknown - benign g.216497472_216497475del g.216324130_216324133del 1328+36_1328+39delGATT - USH2A_000141 Heterozygous PubMed: Adato 2000 - - Germline - - +BsrI - - DNA SEQ - - USH2 - PubMed: Adato 2000 Proband - - Iceland - - - - - 1 Anne-Françoise Roux
-/- 07i c.1328+37_1328+40del r.(=) p.(=) - Unknown - benign g.216497472_216497475del g.216324130_216324133del 1328+36_1328+39delGATT - USH2A_000141 Heterozygous PubMed: Adato 2000 - - Germline - - +BsrI - - DNA SEQ - - USH2 - PubMed: Adato 2000 Proband - - Iceland - - - - - 1 Anne-Françoise Roux
-/- 07i c.1328+37_1328+40del r.(=) p.(=) - Unknown - benign g.216497472_216497475del g.216324130_216324133del 1328+36_1328+39delGATT - USH2A_000141 Heterozygous PubMed: Weston 2000 - - Germline - - +BsrI - - DNA SEQ - - USH2 - PubMed: Weston 2000 Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
-/- 07i c.1328+37_1328+40del r.(=) p.(=) - Unknown - benign g.216497472_216497475del g.216324130_216324133del 1328+36_1328+39delGATT - USH2A_000141 Heterozygous PubMed: Weston 2000 - - Germline - - +BsrI - - DNA SEQ - - USH2 - PubMed: Weston 2000 Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
-/- 07i c.1328+37_1328+40del r.(=) p.(=) - Unknown - benign g.216497472_216497475del g.216324130_216324133del 1328+36_1328+39delGATT - USH2A_000141 Heterozygous PubMed: Weston 2000 - - Germline - - +BsrI - - DNA SEQ - - USH2 - PubMed: Weston 2000 Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
-/- 07i c.1328+37_1328+40del r.(=) p.(=) - Unknown - benign g.216497472_216497475del g.216324130_216324133del 1328+36_1328+39delGATT - USH2A_000141 Heterozygous PubMed: Weston 2000 - - Germline - - +BsrI - - DNA SEQ - - USH2 - PubMed: Weston 2000 Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
-/- 07i c.1328+37_1328+40del r.(=) p.(=) - Unknown - benign g.216497472_216497475del g.216324130_216324133del 1328+36_1328+39delGATT - USH2A_000141 Heterozygous PubMed: Weston 2000 - - Germline - - +BsrI - - DNA SEQ - - USH2 - PubMed: Weston 2000 Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
-/- 07i c.1328+37_1328+40del r.(=) p.(=) - Unknown - benign g.216497472_216497475del g.216324130_216324133del 1328+36_1328+39delGATT - USH2A_000141 Heterozygous PubMed: Jaijo 2010 - - Germline - - +BsrI - - DNA minigene, SEQ - - USH2 - PubMed: Jaijo 2010 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 07i c.1328+37_1328+40del r.(=) p.(=) - Unknown - benign g.216497472_216497475del g.216324130_216324133del 1328+36_1328+39delGATT - USH2A_000141 Heterozygous PubMed: Bernal 2003 - - Germline - - +BsrI - - DNA SEQ - - RPar - PubMed: Bernal 2003 Proband F - Spain - - - - - 1 Anne-Françoise Roux
-/- 07i c.1328+37_1328+40del r.(=) p.(=) - Unknown - benign g.216497472_216497475del g.216324130_216324133del 1328+36_1328+39delGATT - USH2A_000141 Heterozygous PubMed: Bernal 2003 - - Germline - - +BsrI - - DNA SEQ - - RPar - PubMed: Bernal 2003 Relative F - Spain - - - - - 1 Anne-Françoise Roux
-/- 07i c.1328+37_1328+40del r.(=) p.(=) - Parent #2 - benign g.216497472_216497475del g.216324130_216324133del 1328+36_1328+39delGATT - USH2A_000141 Heterozygous PubMed: Bernal 2003 - - Germline - - +BsrI - - DNA SEQ - - RPar - PubMed: Bernal 2003 Proband M - Spain - - - - - 1 Anne-Françoise Roux
-/- 07i c.1328+37_1328+40del r.(=) p.(=) - Parent #2 - benign g.216497472_216497475del g.216324130_216324133del 1328+36_1328+39delGATT - USH2A_000141 Heterozygous PubMed: Bernal 2003 - - Germline - - +BsrI - - DNA SEQ - - RPar - PubMed: Bernal 2003 Relative M - Spain - - - - - 1 Anne-Françoise Roux
-/- 07i c.1328+37_1328+40del r.(=) p.(=) - Unknown - benign g.216497472_216497475del g.216324130_216324133del 1328+36_1328+39delGATT - USH2A_000141 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012 - - Germline - - +BsrI - - DNA SEQ - - USH - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 07i c.1328+37_1328+40del r.(=) p.(=) - Unknown - benign g.216497472_216497475del g.216324130_216324133del 1328+36_1328+39delGATT - USH2A_000141 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012 - - Germline - - +BsrI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 07i c.1328+37_1328+40del r.(=) p.(=) - Unknown - benign g.216497472_216497475del g.216324130_216324133del 1328+36_1328+39delGATT - USH2A_000141 Heterozygous PubMed: Jaijo 2010 - - Germline - - +BsrI - - DNA SEQ - - USH2 - PubMed: Jaijo 2010 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 07i c.1328+37_1328+40del r.(=) p.(=) - Unknown - benign g.216497472_216497475del g.216324130_216324133del 1328+36_1328+39delGATT - USH2A_000141 Heterozygous PubMed: Garcia-Garcia 2011 - - Germline - - +BsrI - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 07i c.1328+37_1328+40del r.(=) p.(=) - Paternal (confirmed) - benign g.216497472_216497475del g.216324130_216324133del 1328+35delTGAT - USH2A_000141 Heterozygous; potential PubMed: Vastinsalo 2012 - - Germline - 1.6% (150 controls) +BsrI - - DNA PE, SEQ - APEX USH2 - PubMed: Vastinsalo 2012 Proband F - Finland - - - - - 1 Anne-Françoise Roux
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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