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.

11 entries on 1 page. Showing entries 1 - 11.
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Effect     

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AscendingDNA change (cDNA)     

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-/. - c.14543G>A r.(?) p.(Arg4848Gln) - Unknown - benign g.215821909C>T g.215648567C>T - - USH2A_000279 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 66 c.14543G>A r.(?) p.(Arg4848Gln) Fibronectin type-III 34 (4826-4927) Parent #2 - benign g.215821909C>T g.215648567C>T - - USH2A_000279 Heterozygous; Predicted benign PubMed: Neveling 2012, USMA missense analysis, missense variant in MSV3d - rs77211159 Germline - - +BsrI;+TspRI;-MspI;-HpaII;-BsaWI; - - DNA SEQ, SEQ-NG-S - - RPar - PubMed: Neveling 2012 Proband F - - - - - - - 1 Anne-Françoise Roux
-/- 66 c.14543G>A r.(?) p.(Arg4848Gln) Fibronectin type-III 34 (4826-4927) Unknown - benign g.215821909C>T g.215648567C>T - - USH2A_000279 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs77211159 Germline - 15/874 controls +BsrI;+TspRI;-MspI;-HpaII;-BsaWI; - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 66 c.14543G>A r.(?) p.(Arg4848Gln) Fibronectin type-III 34 (4826-4927) Unknown - benign g.215821909C>T g.215648567C>T - - USH2A_000279 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs77211159 Germline - 15/874 controls +BsrI;+TspRI;-MspI;-HpaII;-BsaWI; - - DNA SEQ - - USH1 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 66 c.14543G>A r.(?) p.(Arg4848Gln) Fibronectin type-III 34 (4826-4927) Paternal (inferred) - benign g.215821909C>T g.215648567C>T - - USH2A_000279 Homozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs77211159 Germline - 15/874 controls +BsrI;+TspRI;-MspI;-HpaII;-BsaWI; - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 66 c.14543G>A r.(?) p.(Arg4848Gln) Fibronectin type-III 34 (4826-4927) Maternal (inferred) - benign g.215821909C>T g.215648567C>T - - USH2A_000279 Homozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs77211159 Germline - 15/874 controls +BsrI;+TspRI;-MspI;-HpaII;-BsaWI; - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 66 c.14543G>A r.(?) p.(Arg4848Gln) Fibronectin type-III 34 (4826-4927) Unknown - benign g.215821909C>T g.215648567C>T - - USH2A_000279 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs77211159 Germline - 15/874 controls +BsrI;+TspRI;-MspI;-HpaII;-BsaWI; - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/? 66 c.14543G>A r.(?) p.(Arg4848Gln) Fibronectin type-III 34 (4826-4927) Paternal (confirmed) - benign g.215821909C>T g.215648567C>T - - USH2A_000279 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs77211159 Germline - - +BsrI;+TspRI;-MspI;-HpaII;-BsaWI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - Italy - - - - - 1 Anne-Françoise Roux
-/- 66 c.14543G>A r.(?) p.(Arg4848Gln) Fibronectin type-III 34 (4826-4927) Unknown - benign g.215821909C>T g.215648567C>T - - USH2A_000279 Heterozygous; benign PubMed: McGee 2010, USMA missense analysis, missense variant in MSV3d - rs77211159 Germline - - +BsrI;+TspRI;-MspI;-HpaII;-BsaWI; - - DNA SEQ - - RPar - PubMed: McGee 2010 Proband - No genotype in the publication - - United States - - - - - 2 Anne-Françoise Roux
-/. - c.14543G>A r.(?) p.(Arg4848Gln) - Unknown - benign g.215821909C>T g.215648567C>T - - USH2A_000279 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs77211159 Germline - 189/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 189 Yoshito Koyanagi
-/. - c.14543G>A r.(?) p.(Arg4848Gln) - Both (homozygous) - benign g.215821909C>T g.215648567C>T - - USH2A_000279 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs77211159 Germline - 13/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 13 Yoshito Koyanagi
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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