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.

44 entries on 1 page. Showing entries 1 - 44.
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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     

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Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

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Age at death     

VIP     

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Owner     
-/. - c.8656C>T r.(?) p.(Leu2886Phe) - Unknown - benign g.216051125G>A g.215877783G>A - - USH2A_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 43 c.8656C>T r.(?) p.(Leu2886Phe) Fibronectin type-III 15 (2821-2920) Unknown - benign g.216051125G>A g.215877783G>A - - USH2A_000070 Heterozygous; non causative PubMed: Rong 2014, USMA missense analysis, missense variant in MSV3d - rs41277200 Germline - - -CviKI_1 - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Rong 2014 Proband - variants found in samples of two affected brothers. They carry the same causative mutations in MYO7A, but other variants cannot be discriminated from the publication. M - China - - - - - 1 Anne-Françoise Roux
-/- 43 c.8656C>T r.(?) p.(Leu2886Phe) Fibronectin type-III 15 (2821-2920) Unknown - benign g.216051125G>A g.215877783G>A - - USH2A_000070 Heterozygous; likely polymorphism PubMed: Vastinsalo 2012, USMA missense analysis, missense variant in MSV3d - rs41277200 Germline - - -CviKI_1 - - DNA PE, SEQ - APEX USH3 - PubMed: Vastinsalo 2012 Proband - - Finland - - - - - 1 Anne-Françoise Roux
-/- 43 c.8656C>T r.(?) p.(Leu2886Phe) Fibronectin type-III 15 (2821-2920) Unknown - benign g.216051125G>A g.215877783G>A - - USH2A_000070 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs41277200 Germline - 53/840 controls -CviKI_1 - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 43 c.8656C>T r.(?) p.(Leu2886Phe) Fibronectin type-III 15 (2821-2920) Paternal (inferred) - benign g.216051125G>A g.215877783G>A - - USH2A_000070 Homozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs41277200 Germline - 53/840 controls -CviKI_1 - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 43 c.8656C>T r.(?) p.(Leu2886Phe) Fibronectin type-III 15 (2821-2920) Maternal (inferred) - benign g.216051125G>A g.215877783G>A - - USH2A_000070 Homozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs41277200 Germline - 53/840 controls -CviKI_1 - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 43 c.8656C>T r.(?) p.(Leu2886Phe) Fibronectin type-III 15 (2821-2920) Unknown - benign g.216051125G>A g.215877783G>A - - USH2A_000070 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs41277200 Germline - 53/840 controls -CviKI_1 - - DNA SEQ - - USH3 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 43 c.8656C>T r.(?) p.(Leu2886Phe) Fibronectin type-III 15 (2821-2920) Unknown - benign g.216051125G>A g.215877783G>A - - USH2A_000070 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs41277200 Germline - 53/840 controls -CviKI_1 - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 43 c.8656C>T r.(?) p.(Leu2886Phe) Fibronectin type-III 15 (2821-2920) Unknown - benign g.216051125G>A g.215877783G>A - - USH2A_000070 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs41277200 Germline - 53/840 controls -CviKI_1 - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 43 c.8656C>T r.(?) p.(Leu2886Phe) Fibronectin type-III 15 (2821-2920) Paternal (inferred) - benign g.216051125G>A g.215877783G>A - - USH2A_000070 Homozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs41277200 Germline - 53/840 controls -CviKI_1 - - DNA SEQ - - USH1 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 43 c.8656C>T r.(?) p.(Leu2886Phe) Fibronectin type-III 15 (2821-2920) Maternal (inferred) - benign g.216051125G>A g.215877783G>A - - USH2A_000070 Homozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs41277200 Germline - 53/840 controls -CviKI_1 - - DNA SEQ - - USH1 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 43 c.8656C>T r.(?) p.(Leu2886Phe) Fibronectin type-III 15 (2821-2920) Unknown - benign g.216051125G>A g.215877783G>A - - USH2A_000070 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs41277200 Germline - 53/840 controls -CviKI_1 - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 43 c.8656C>T r.(?) p.(Leu2886Phe) Fibronectin type-III 15 (2821-2920) Unknown - benign g.216051125G>A g.215877783G>A - - USH2A_000070 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs41277200 Germline - 53/840 controls -CviKI_1 - - DNA SEQ - - USH - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 43 c.8656C>T r.(?) p.(Leu2886Phe) Fibronectin type-III 15 (2821-2920) Unknown - benign g.216051125G>A g.215877783G>A - - USH2A_000070 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs41277200 Germline - 53/840 controls -CviKI_1 - - DNA SEQ - - USH1 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 43 c.8656C>T r.(?) p.(Leu2886Phe) Fibronectin type-III 15 (2821-2920) Unknown - benign g.216051125G>A g.215877783G>A - - USH2A_000070 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs41277200 Germline - 53/840 controls -CviKI_1 - - DNA SEQ - - USH1 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 43 c.8656C>T r.(?) p.(Leu2886Phe) Fibronectin type-III 15 (2821-2920) Unknown - benign g.216051125G>A g.215877783G>A - - USH2A_000070 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs41277200 Germline - 53/840 controls -CviKI_1 - - DNA SEQ - - USH1 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 43 c.8656C>T r.(?) p.(Leu2886Phe) Fibronectin type-III 15 (2821-2920) Parent #1 - benign g.216051125G>A g.215877783G>A - - USH2A_000070 Heterozygous USMA missense analysis, missense variant in MSV3d - rs41277200 Germline - - -CviKI_1 - - DNA SEQ - - USH2 - - Relative M - France - - - - - 1 Anne-Françoise Roux
-/- 43 c.8656C>T r.(?) p.(Leu2886Phe) Fibronectin type-III 15 (2821-2920) Parent #1 - benign g.216051125G>A g.215877783G>A - - USH2A_000070 Heterozygous USMA missense analysis, missense variant in MSV3d - rs41277200 Germline - - -CviKI_1 - - DNA SEQ - - USH2 - - Relative M - France - - - - - 1 Anne-Françoise Roux
-/- 43 c.8656C>T r.(?) p.(Leu2886Phe) Fibronectin type-III 15 (2821-2920) Parent #1 - benign g.216051125G>A g.215877783G>A - - USH2A_000070 Heterozygous USMA missense analysis, missense variant in MSV3d - rs41277200 Germline - - -CviKI_1 - - DNA SEQ - - USH2 - - Relative M - France - - - - - 1 Anne-Françoise Roux
-/- 43 c.8656C>T r.(?) p.(Leu2886Phe) Fibronectin type-III 15 (2821-2920) Parent #1 - benign g.216051125G>A g.215877783G>A - - USH2A_000070 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs41277200 Germline - - -CviKI_1 - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 43 c.8656C>T r.(?) p.(Leu2886Phe) Fibronectin type-III 15 (2821-2920) Unknown - benign g.216051125G>A g.215877783G>A - - USH2A_000070 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs41277200 Germline - - -CviKI_1 - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 43 c.8656C>T r.(?) p.(Leu2886Phe) Fibronectin type-III 15 (2821-2920) Unknown - benign g.216051125G>A g.215877783G>A - - USH2A_000070 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs41277200 Germline - - -CviKI_1 - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 43 c.8656C>T r.(?) p.(Leu2886Phe) Fibronectin type-III 15 (2821-2920) Unknown - benign g.216051125G>A g.215877783G>A - - USH2A_000070 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs41277200 Germline - - -CviKI_1 - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 43 c.8656C>T r.(?) p.(Leu2886Phe) Fibronectin type-III 15 (2821-2920) Unknown - benign g.216051125G>A g.215877783G>A - - USH2A_000070 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs41277200 Germline - - -CviKI_1 - - DNA SEQ - - USH2 - PubMed: Baux 2014 Relative M - France - - - - - 1 Anne-Françoise Roux
-/- 43 c.8656C>T r.(?) p.(Leu2886Phe) Fibronectin type-III 15 (2821-2920) Unknown - benign g.216051125G>A g.215877783G>A - - USH2A_000070 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs41277200 Germline - - -CviKI_1 - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 43 c.8656C>T r.(?) p.(Leu2886Phe) Fibronectin type-III 15 (2821-2920) Paternal (inferred) - benign g.216051125G>A g.215877783G>A - - USH2A_000070 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs41277200 Germline - - -CviKI_1 - - DNA minigene, SEQ - - USH2 - PubMed: Baux 2014 Proband F - Austria - - - - - 1 Anne-Françoise Roux
-/- 43 c.8656C>T r.(?) p.(Leu2886Phe) Fibronectin type-III 15 (2821-2920) Maternal (inferred) - benign g.216051125G>A g.215877783G>A - - USH2A_000070 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs41277200 Germline - - -CviKI_1 - - DNA minigene, SEQ - - USH2 - PubMed: Baux 2014 Proband F - Austria - - - - - 1 Anne-Françoise Roux
-/- 43 c.8656C>T r.(?) p.(Leu2886Phe) Fibronectin type-III 15 (2821-2920) Unknown - benign g.216051125G>A g.215877783G>A - - USH2A_000070 Heterozygous USMA missense analysis, missense variant in MSV3d - rs41277200 Germline - - -CviKI_1 - - DNA minigene, SEQ, SEQ-NG-S - - USH2 - Liquori accepted Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 43 c.8656C>T r.(?) p.(Leu2886Phe) Fibronectin type-III 15 (2821-2920) Unknown - benign g.216051125G>A g.215877783G>A - - USH2A_000070 Heterozygous PubMed: Le Guédard-Méreuze 2010, USMA missense analysis, missense variant in MSV3d - rs41277200 Germline - - -CviKI_1 - - DNA minigene, SEQ - - USH2 - PubMed: Le Guédard-Méreuze 2010 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 43 c.8656C>T r.(?) p.(Leu2886Phe) Fibronectin type-III 15 (2821-2920) Unknown - benign g.216051125G>A g.215877783G>A - - USH2A_000070 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs41277200 Germline - - -CviKI_1 - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 43 c.8656C>T r.(?) p.(Leu2886Phe) Fibronectin type-III 15 (2821-2920) Unknown - benign g.216051125G>A g.215877783G>A - - USH2A_000070 Heterozygous; benign PubMed: McGee 2010, USMA missense analysis, missense variant in MSV3d - rs41277200 Germline - - -CviKI_1 - - DNA SEQ - - USH2 - PubMed: McGee 2010 Proband - No genotype in the publication - - United States - - - - - 8 Anne-Françoise Roux
-/- 43 c.8656C>T r.(?) p.(Leu2886Phe) Fibronectin type-III 15 (2821-2920) Unknown - benign g.216051125G>A g.215877783G>A - - USH2A_000070 Heterozygous; benign PubMed: McGee 2010, USMA missense analysis, missense variant in MSV3d - rs41277200 Germline - - -CviKI_1 - - DNA SEQ - - RPar - PubMed: McGee 2010 Proband - No genotype in the publication - - United States - - - - - 4 Anne-Françoise Roux
-/- 43 c.8656C>T r.(?) p.(Leu2886Phe) Fibronectin type-III 15 (2821-2920) Unknown - benign g.216051125G>A g.215877783G>A - - USH2A_000070 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs41277200 Germline - - -CviKI_1 - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 43 c.8656C>T r.(?) p.(Leu2886Phe) Fibronectin type-III 15 (2821-2920) Unknown - benign g.216051125G>A g.215877783G>A - - USH2A_000070 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs41277200 Germline - - -CviKI_1 - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 43 c.8656C>T r.(?) p.(Leu2886Phe) Fibronectin type-III 15 (2821-2920) Unknown - benign g.216051125G>A g.215877783G>A - - USH2A_000070 Heterozygous; Neutral PubMed: Garcia-Garcia 2011, USMA missense analysis, missense variant in MSV3d - rs41277200 Germline - - -CviKI_1 - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 43 c.8656C>T r.(?) p.(Leu2886Phe) Fibronectin type-III 15 (2821-2920) Unknown - benign g.216051125G>A g.215877783G>A - - USH2A_000070 Heterozygous; Neutral PubMed: Garcia-Garcia 2011, USMA missense analysis, missense variant in MSV3d - rs41277200 Germline - - -CviKI_1 - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 43 c.8656C>T r.(?) p.(Leu2886Phe) Fibronectin type-III 15 (2821-2920) Unknown - benign g.216051125G>A g.215877783G>A - - USH2A_000070 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs41277200 Germline - - -CviKI_1 - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 43 c.8656C>T r.(?) p.(Leu2886Phe) Fibronectin type-III 15 (2821-2920) Unknown - benign g.216051125G>A g.215877783G>A - - USH2A_000070 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs41277200 Germline - - -CviKI_1 - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 43 c.8656C>T r.(?) p.(Leu2886Phe) Fibronectin type-III 15 (2821-2920) Unknown - benign g.216051125G>A g.215877783G>A - - USH2A_000070 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs41277200 Germline - - -CviKI_1 - - DNA arrayCGH, SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 43 c.8656C>T r.(?) p.(Leu2886Phe) Fibronectin type-III 15 (2821-2920) Unknown - benign g.216051125G>A g.215877783G>A - - USH2A_000070 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs41277200 Germline - - -CviKI_1 - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 43 c.8656C>T r.(?) p.(Leu2886Phe) Fibronectin type-III 15 (2821-2920) Unknown - benign g.216051125G>A g.215877783G>A - - USH2A_000070 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs41277200 Germline - - -CviKI_1 - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 43 c.8656C>T r.(?) p.(Leu2886Phe) Fibronectin type-III 15 (2821-2920) Unknown - benign g.216051125G>A g.215877783G>A - - USH2A_000070 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs41277200 Germline - - -CviKI_1 - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/. - c.8656C>T r.(?) p.(Leu2886Phe) - Unknown - benign g.216051125G>A g.215877783G>A - - USH2A_000070 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs41277200 Germline - 260/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 260 Yoshito Koyanagi
-/. - c.8656C>T r.(?) p.(Leu2886Phe) - Both (homozygous) - benign g.216051125G>A g.215877783G>A - - USH2A_000070 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs41277200 Germline - 15/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 15 Yoshito Koyanagi
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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