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.

38 entries on 1 page. Showing entries 1 - 38.
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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     
-/. - c.9296A>G r.(?) p.(Asn3099Ser) - Unknown - benign g.216011408T>C g.215838066T>C USH2A(NM_206933.2):c.9296A>G (p.N3099S) - USH2A_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.9296A>G r.(?) p.(Asn3099Ser) - Unknown - benign g.216011408T>C g.215838066T>C USH2A(NM_206933.2):c.9296A>G (p.N3099S) - USH2A_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 47 c.9296A>G r.(?) p.(Asn3099Ser) Fibronectin type-III 17 (3020-3105) Unknown - benign g.216011408T>C g.215838066T>C - - USH2A_000087 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs41277194 Germline - - +TspRI;+BtsI;-BsrDI; - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 47 c.9296A>G r.(?) p.(Asn3099Ser) Fibronectin type-III 17 (3020-3105) Unknown - benign g.216011408T>C g.215838066T>C - - USH2A_000087 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs41277194 Germline - - +TspRI;+BtsI;-BsrDI; - - DNA SEQ - - USH1 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 47 c.9296A>G r.(?) p.(Asn3099Ser) Fibronectin type-III 17 (3020-3105) Unknown - benign g.216011408T>C g.215838066T>C - - USH2A_000087 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs41277194 Germline - - +TspRI;+BtsI;-BsrDI; - - DNA SEQ - - USH1 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 47 c.9296A>G r.(?) p.(Asn3099Ser) Fibronectin type-III 17 (3020-3105) Parent #2 - benign g.216011408T>C g.215838066T>C - - USH2A_000087 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs41277194 Germline - - +TspRI;+BtsI;-BsrDI; - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 47 c.9296A>G r.(?) p.(Asn3099Ser) Fibronectin type-III 17 (3020-3105) Unknown - benign g.216011408T>C g.215838066T>C - - USH2A_000087 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs41277194 Germline - - +TspRI;+BtsI;-BsrDI; - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 47 c.9296A>G r.(?) p.(Asn3099Ser) Fibronectin type-III 17 (3020-3105) Unknown - benign g.216011408T>C g.215838066T>C - - USH2A_000087 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs41277194 Germline - - +TspRI;+BtsI;-BsrDI; - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 47 c.9296A>G r.(?) p.(Asn3099Ser) Fibronectin type-III 17 (3020-3105) Unknown - benign g.216011408T>C g.215838066T>C - - USH2A_000087 Heterozygous PubMed: Najera 2002, USMA missense analysis, missense variant in MSV3d - rs41277194 Germline - - +TspRI;+BtsI;-BsrDI; - - DNA SEQ - - USH2 - PubMed: Najera 2002 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 47 c.9296A>G r.(?) p.(Asn3099Ser) Fibronectin type-III 17 (3020-3105) Unknown - benign g.216011408T>C g.215838066T>C - - USH2A_000087 Heterozygous; Neutral PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - rs41277194 Germline - - +TspRI;+BtsI;-BsrDI; - - DNA SEQ, SSCA - - USH - PubMed: Jaijo 2010 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 47 c.9296A>G r.(?) p.(Asn3099Ser) Fibronectin type-III 17 (3020-3105) Unknown - benign g.216011408T>C g.215838066T>C - - USH2A_000087 Heterozygous PubMed: Aller 2004, USMA missense analysis, missense variant in MSV3d - rs41277194 Germline - - +TspRI;+BtsI;-BsrDI; - - DNA SEQ - - RPar - PubMed: Aller 2004 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 47 c.9296A>G r.(?) p.(Asn3099Ser) Fibronectin type-III 17 (3020-3105) Unknown - benign g.216011408T>C g.215838066T>C - - USH2A_000087 Heterozygous PubMed: Najera 2002, USMA missense analysis, missense variant in MSV3d - rs41277194 Germline - - +TspRI;+BtsI;-BsrDI; - - DNA SEQ - - USH2 - PubMed: Najera 2002 Proband - - Spain - - - - - 1 Jose Maria Millan
-/- 47 c.9296A>G r.(?) p.(Asn3099Ser) Fibronectin type-III 17 (3020-3105) Unknown - benign g.216011408T>C g.215838066T>C - - USH2A_000087 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs41277194 Germline - - +TspRI;+BtsI;-BsrDI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 47 c.9296A>G r.(?) p.(Asn3099Ser) Fibronectin type-III 17 (3020-3105) Unknown - benign g.216011408T>C g.215838066T>C - - USH2A_000087 Heterozygous PubMed: Vaché 2012, USMA missense analysis, missense variant in MSV3d - rs41277194 Germline - - +TspRI;+BtsI;-BsrDI; - - DNA SEQ - - USH2 - PubMed: Vaché 2012 Proband F - Italy - - - - - 1 Anne-Françoise Roux
-/- 47 c.9296A>G r.(?) p.(Asn3099Ser) Fibronectin type-III 17 (3020-3105) Unknown - benign g.216011408T>C g.215838066T>C - - USH2A_000087 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs41277194 Germline - - +TspRI;+BtsI;-BsrDI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 47 c.9296A>G r.(?) p.(Asn3099Ser) Fibronectin type-III 17 (3020-3105) Unknown - benign g.216011408T>C g.215838066T>C - - USH2A_000087 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs41277194 Germline - - +TspRI;+BtsI;-BsrDI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - Cameroon - - - - - 1 Anne-Françoise Roux
-/- 47 c.9296A>G r.(?) p.(Asn3099Ser) Fibronectin type-III 17 (3020-3105) Unknown - benign g.216011408T>C g.215838066T>C - - USH2A_000087 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs41277194 Germline - - +TspRI;+BtsI;-BsrDI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 47 c.9296A>G r.(?) p.(Asn3099Ser) Fibronectin type-III 17 (3020-3105) Unknown - benign g.216011408T>C g.215838066T>C - - USH2A_000087 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs41277194 Germline - - +TspRI;+BtsI;-BsrDI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 47 c.9296A>G r.(?) p.(Asn3099Ser) Fibronectin type-III 17 (3020-3105) Unknown - benign g.216011408T>C g.215838066T>C - - USH2A_000087 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs41277194 Germline - - +TspRI;+BtsI;-BsrDI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 47 c.9296A>G r.(?) p.(Asn3099Ser) Fibronectin type-III 17 (3020-3105) Unknown - benign g.216011408T>C g.215838066T>C - - USH2A_000087 Heterozygous; polymorphism PubMed: McGee 2010, USMA missense analysis, missense variant in MSV3d - rs41277194 Germline - - +TspRI;+BtsI;-BsrDI; - - DNA SEQ - - USH2 - PubMed: McGee 2010 Proband - No genotype in the publication for polymorphisms - - United States - - - - - 6 Anne-Françoise Roux
-/- 47 c.9296A>G r.(?) p.(Asn3099Ser) Fibronectin type-III 17 (3020-3105) Unknown - benign g.216011408T>C g.215838066T>C - - USH2A_000087 Heterozygous; polymorphism PubMed: McGee 2010, USMA missense analysis, missense variant in MSV3d - rs41277194 Germline - - +TspRI;+BtsI;-BsrDI; - - DNA SEQ - - RPar - PubMed: McGee 2010 Proband - No genotype in the publication for polymorphisms - - United States - - - - - 12 Anne-Françoise Roux
-/- 47 c.9296A>G r.(?) p.(Asn3099Ser) Fibronectin type-III 17 (3020-3105) Unknown - benign g.216011408T>C g.215838066T>C - - USH2A_000087 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs41277194 Germline - - +TspRI;+BtsI;-BsrDI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - Morocco - - - - - 1 Anne-Françoise Roux
-/- 47 c.9296A>G r.(?) p.(Asn3099Ser) Fibronectin type-III 17 (3020-3105) Paternal (inferred) - benign g.216011408T>C g.215838066T>C - - USH2A_000087 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs41277194 Germline - - +TspRI;+BtsI;-BsrDI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband - - Algeria - - - - - 1 Anne-Françoise Roux
-/- 47 c.9296A>G r.(?) p.(Asn3099Ser) Fibronectin type-III 17 (3020-3105) Maternal (inferred) - benign g.216011408T>C g.215838066T>C - - USH2A_000087 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs41277194 Germline - - +TspRI;+BtsI;-BsrDI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband - - Algeria - - - - - 1 Anne-Françoise Roux
-/- 47 c.9296A>G r.(?) p.(Asn3099Ser) Fibronectin type-III 17 (3020-3105) Unknown - benign g.216011408T>C g.215838066T>C - - USH2A_000087 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs41277194 Germline - - +TspRI;+BtsI;-BsrDI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - Algeria - - - - - 1 Anne-Françoise Roux
-/- 47 c.9296A>G r.(?) p.(Asn3099Ser) Fibronectin type-III 17 (3020-3105) Unknown - benign g.216011408T>C g.215838066T>C - - USH2A_000087 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs41277194 Germline - - +TspRI;+BtsI;-BsrDI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 47 c.9296A>G r.(?) p.(Asn3099Ser) Fibronectin type-III 17 (3020-3105) Unknown - benign g.216011408T>C g.215838066T>C - - USH2A_000087 Heterozygous PubMed: Vaché 2012, USMA missense analysis, missense variant in MSV3d - rs41277194 Germline - - +TspRI;+BtsI;-BsrDI; - - DNA, RNA RT-PCR, SEQ - - USH2 - PubMed: Vaché 2012 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 47 c.9296A>G r.(?) p.(Asn3099Ser) Fibronectin type-III 17 (3020-3105) Unknown - benign g.216011408T>C g.215838066T>C - - USH2A_000087 Heterozygous PubMed: Vaché 2012, USMA missense analysis, missense variant in MSV3d - rs41277194 Germline - - +TspRI;+BtsI;-BsrDI; - - DNA SEQ - - USH2 - PubMed: Vaché 2012 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 47 c.9296A>G r.(?) p.(Asn3099Ser) Fibronectin type-III 17 (3020-3105) Unknown - benign g.216011408T>C g.215838066T>C - - USH2A_000087 Heterozygous; Neutral PubMed: Garcia-Garcia 2011, USMA missense analysis, missense variant in MSV3d - rs41277194 Germline - - +TspRI;+BtsI;-BsrDI; - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 47 c.9296A>G r.(?) p.(Asn3099Ser) Fibronectin type-III 17 (3020-3105) Unknown - benign g.216011408T>C g.215838066T>C - - USH2A_000087 Heterozygous; Neutral PubMed: Garcia-Garcia 2011, USMA missense analysis, missense variant in MSV3d - rs41277194 Germline - - +TspRI;+BtsI;-BsrDI; - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 47 c.9296A>G r.(?) p.(Asn3099Ser) Fibronectin type-III 17 (3020-3105) Unknown - benign g.216011408T>C g.215838066T>C - - USH2A_000087 Heterozygous; Neutral PubMed: Garcia-Garcia 2011, USMA missense analysis, missense variant in MSV3d - rs41277194 Germline - - +TspRI;+BtsI;-BsrDI; - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 47 c.9296A>G r.(?) p.(Asn3099Ser) Fibronectin type-III 17 (3020-3105) Unknown - benign g.216011408T>C g.215838066T>C - - USH2A_000087 Heterozygous; Neutral PubMed: Garcia-Garcia 2011, USMA missense analysis, missense variant in MSV3d - rs41277194 Germline - - +TspRI;+BtsI;-BsrDI; - - DNA SEQ, SSCA - - USH2 - PubMed: Garcia-Garcia 2011 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 47 c.9296A>G r.(?) p.(Asn3099Ser) Fibronectin type-III 17 (3020-3105) Unknown - benign g.216011408T>C g.215838066T>C - - USH2A_000087 Heterozygous; Neutral PubMed: Garcia-Garcia 2011, USMA missense analysis, missense variant in MSV3d - rs41277194 Germline - - +TspRI;+BtsI;-BsrDI; - - DNA SEQ - - USH2 RP1638 PubMed: Garcia-Garcia 2011 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 47 c.9296A>G r.(?) p.(Asn3099Ser) Fibronectin type-III 17 (3020-3105) Unknown - benign g.216011408T>C g.215838066T>C - - USH2A_000087 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs41277194 Germline - - +TspRI;+BtsI;-BsrDI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 47 c.9296A>G r.(?) p.(Asn3099Ser) Fibronectin type-III 17 (3020-3105) Unknown - benign g.216011408T>C g.215838066T>C - - USH2A_000087 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs41277194 Germline - - +TspRI;+BtsI;-BsrDI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 47 c.9296A>G r.(?) p.(Asn3099Ser) Fibronectin type-III 17 (3020-3105) Maternal (confirmed) - benign g.216011408T>C g.215838066T>C - - USH2A_000087 Heterozygous; potential PubMed: Vastinsalo 2012, USMA missense analysis, missense variant in MSV3d - rs41277194 Germline - 4.5% (150 controls) +TspRI;+BtsI;-BsrDI; - - DNA PE, SEQ - APEX USH2 - PubMed: Vastinsalo 2012 Proband F - Finland - - - - - 1 Anne-Françoise Roux
-/- 47 c.9296A>G r.(?) p.(Asn3099Ser) Fibronectin type-III 17 (3020-3105) Unknown - benign g.216011408T>C g.215838066T>C - - USH2A_000087 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs41277194 Germline - - +TspRI;+BtsI;-BsrDI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/. - c.9296A>G r.(?) p.(Asn3099Ser) - Parent #1 - benign g.216011408T>C g.215838066T>C - - USH2A_000087 13 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41277194 Germline - 13/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 13 Mohammed Faruq
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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