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.

32 entries on 1 page. Showing entries 1 - 32.
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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     
-/- 48 c.9430G>A r.(?) p.(Asp3144Asn) Fibronectin type-III 18 (3110-3200) Unknown - benign g.215990479C>T g.215817137C>T - - USH2A_000086 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs11120645 Germline - - -Sau3AI;-DpnII;-BfuCI;-DpnI; - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 48 c.9430G>A r.(?) p.(Asp3144Asn) Fibronectin type-III 18 (3110-3200) Unknown - benign g.215990479C>T g.215817137C>T - - USH2A_000086 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs11120645 Germline - - -Sau3AI;-DpnII;-BfuCI;-DpnI; - - DNA SEQ - - USH1 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 48 c.9430G>A r.(?) p.(Asp3144Asn) Fibronectin type-III 18 (3110-3200) Unknown - benign g.215990479C>T g.215817137C>T - - USH2A_000086 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs11120645 Germline - - -Sau3AI;-DpnII;-BfuCI;-DpnI; - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 48 c.9430G>A r.(?) p.(Asp3144Asn) Fibronectin type-III 18 (3110-3200) Unknown - benign g.215990479C>T g.215817137C>T - - USH2A_000086 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs11120645 Germline - - -Sau3AI;-DpnII;-BfuCI;-DpnI; - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 48 c.9430G>A r.(?) p.(Asp3144Asn) Fibronectin type-III 18 (3110-3200) Unknown - benign g.215990479C>T g.215817137C>T - - USH2A_000086 Heterozygous PubMed: Najera 2002, USMA missense analysis, missense variant in MSV3d - rs11120645 Germline - - -Sau3AI;-DpnII;-BfuCI;-DpnI; - - DNA SEQ - - USH2 - PubMed: Najera 2002 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 48 c.9430G>A r.(?) p.(Asp3144Asn) Fibronectin type-III 18 (3110-3200) Unknown - benign g.215990479C>T g.215817137C>T - - USH2A_000086 Heterozygous; Neutral PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - rs11120645 Germline - - -Sau3AI;-DpnII;-BfuCI;-DpnI; - - DNA SEQ, SSCA - - USH - PubMed: Jaijo 2010 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 48 c.9430G>A r.(?) p.(Asp3144Asn) Fibronectin type-III 18 (3110-3200) Unknown - benign g.215990479C>T g.215817137C>T - - USH2A_000086 Heterozygous PubMed: Aller 2004, USMA missense analysis, missense variant in MSV3d - rs11120645 Germline - - -Sau3AI;-DpnII;-BfuCI;-DpnI; - - DNA SEQ - - RPar - PubMed: Aller 2004 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 48 c.9430G>A r.(?) p.(Asp3144Asn) Fibronectin type-III 18 (3110-3200) Unknown - benign g.215990479C>T g.215817137C>T - - USH2A_000086 Heterozygous; Neutral PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - rs11120645 Germline - - -Sau3AI;-DpnII;-BfuCI;-DpnI; - - DNA SEQ, SSCA - - USH2 - PubMed: Jaijo 2010 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 48 c.9430G>A r.(?) p.(Asp3144Asn) Fibronectin type-III 18 (3110-3200) Unknown - benign g.215990479C>T g.215817137C>T - - USH2A_000086 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs11120645 Germline - - -Sau3AI;-DpnII;-BfuCI;-DpnI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 48 c.9430G>A r.(?) p.(Asp3144Asn) Fibronectin type-III 18 (3110-3200) Unknown - benign g.215990479C>T g.215817137C>T - - USH2A_000086 Heterozygous PubMed: Vaché 2012, USMA missense analysis, missense variant in MSV3d - rs11120645 Germline - - -Sau3AI;-DpnII;-BfuCI;-DpnI; - - DNA SEQ - - USH2 - PubMed: Vaché 2012 Proband F - Italy - - - - - 1 Anne-Françoise Roux
-/- 48 c.9430G>A r.(?) p.(Asp3144Asn) Fibronectin type-III 18 (3110-3200) Unknown - benign g.215990479C>T g.215817137C>T - - USH2A_000086 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs11120645 Germline - - -Sau3AI;-DpnII;-BfuCI;-DpnI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 48 c.9430G>A r.(?) p.(Asp3144Asn) Fibronectin type-III 18 (3110-3200) Unknown - benign g.215990479C>T g.215817137C>T - - USH2A_000086 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs11120645 Germline - - -Sau3AI;-DpnII;-BfuCI;-DpnI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 48 c.9430G>A r.(?) p.(Asp3144Asn) Fibronectin type-III 18 (3110-3200) Unknown - benign g.215990479C>T g.215817137C>T - - USH2A_000086 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs11120645 Germline - - -Sau3AI;-DpnII;-BfuCI;-DpnI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 48 c.9430G>A r.(?) p.(Asp3144Asn) Fibronectin type-III 18 (3110-3200) Unknown - benign g.215990479C>T g.215817137C>T - - USH2A_000086 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs11120645 Germline - - -Sau3AI;-DpnII;-BfuCI;-DpnI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 48 c.9430G>A r.(?) p.(Asp3144Asn) Fibronectin type-III 18 (3110-3200) Unknown - benign g.215990479C>T g.215817137C>T - - USH2A_000086 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs11120645 Germline - - -Sau3AI;-DpnII;-BfuCI;-DpnI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 48 c.9430G>A r.(?) p.(Asp3144Asn) Fibronectin type-III 18 (3110-3200) Unknown - benign g.215990479C>T g.215817137C>T - - USH2A_000086 Heterozygous; polymorphism PubMed: McGee 2010, USMA missense analysis, missense variant in MSV3d - rs11120645 Germline - - -Sau3AI;-DpnII;-BfuCI;-DpnI; - - DNA SEQ - - USH2 - PubMed: McGee 2010 Proband - No genotype in the publication for polymorphisms - - United States - - - - - 6 Anne-Françoise Roux
-/- 48 c.9430G>A r.(?) p.(Asp3144Asn) Fibronectin type-III 18 (3110-3200) Unknown - benign g.215990479C>T g.215817137C>T - - USH2A_000086 Heterozygous; polymorphism PubMed: McGee 2010, USMA missense analysis, missense variant in MSV3d - rs11120645 Germline - - -Sau3AI;-DpnII;-BfuCI;-DpnI; - - DNA SEQ - - RPar - PubMed: McGee 2010 Proband - No genotype in the publication for polymorphisms - - United States - - - - - 11 Anne-Françoise Roux
-/- 48 c.9430G>A r.(?) p.(Asp3144Asn) Fibronectin type-III 18 (3110-3200) Unknown - benign g.215990479C>T g.215817137C>T - - USH2A_000086 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs11120645 Germline - - -Sau3AI;-DpnII;-BfuCI;-DpnI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - Morocco - - - - - 1 Anne-Françoise Roux
-/- 48 c.9430G>A r.(?) p.(Asp3144Asn) Fibronectin type-III 18 (3110-3200) Paternal (inferred) - benign g.215990479C>T g.215817137C>T - - USH2A_000086 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs11120645 Germline - - -Sau3AI;-DpnII;-BfuCI;-DpnI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband - - Algeria - - - - - 1 Anne-Françoise Roux
-/- 48 c.9430G>A r.(?) p.(Asp3144Asn) Fibronectin type-III 18 (3110-3200) Maternal (inferred) - benign g.215990479C>T g.215817137C>T - - USH2A_000086 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs11120645 Germline - - -Sau3AI;-DpnII;-BfuCI;-DpnI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband - - Algeria - - - - - 1 Anne-Françoise Roux
-/- 48 c.9430G>A r.(?) p.(Asp3144Asn) Fibronectin type-III 18 (3110-3200) Unknown - benign g.215990479C>T g.215817137C>T - - USH2A_000086 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs11120645 Germline - - -Sau3AI;-DpnII;-BfuCI;-DpnI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - Algeria - - - - - 1 Anne-Françoise Roux
-/- 48 c.9430G>A r.(?) p.(Asp3144Asn) Fibronectin type-III 18 (3110-3200) Unknown - benign g.215990479C>T g.215817137C>T - - USH2A_000086 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs11120645 Germline - - -Sau3AI;-DpnII;-BfuCI;-DpnI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 48 c.9430G>A r.(?) p.(Asp3144Asn) Fibronectin type-III 18 (3110-3200) Unknown - benign g.215990479C>T g.215817137C>T - - USH2A_000086 Heterozygous PubMed: Vaché 2012, USMA missense analysis, missense variant in MSV3d - rs11120645 Germline - - -Sau3AI;-DpnII;-BfuCI;-DpnI; - - DNA, RNA RT-PCR, SEQ - - USH2 - PubMed: Vaché 2012 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 48 c.9430G>A r.(?) p.(Asp3144Asn) Fibronectin type-III 18 (3110-3200) Unknown - benign g.215990479C>T g.215817137C>T - - USH2A_000086 Heterozygous PubMed: Vaché 2012, USMA missense analysis, missense variant in MSV3d - rs11120645 Germline - - -Sau3AI;-DpnII;-BfuCI;-DpnI; - - DNA SEQ - - USH2 - PubMed: Vaché 2012 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 48 c.9430G>A r.(?) p.(Asp3144Asn) Fibronectin type-III 18 (3110-3200) Unknown - benign g.215990479C>T g.215817137C>T - - USH2A_000086 Heterozygous; Neutral PubMed: Garcia-Garcia 2011, USMA missense analysis, missense variant in MSV3d - rs11120645 Germline - - -Sau3AI;-DpnII;-BfuCI;-DpnI; - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 48 c.9430G>A r.(?) p.(Asp3144Asn) Fibronectin type-III 18 (3110-3200) Unknown - benign g.215990479C>T g.215817137C>T - - USH2A_000086 Heterozygous; Neutral PubMed: Garcia-Garcia 2011, USMA missense analysis, missense variant in MSV3d - rs11120645 Germline - - -Sau3AI;-DpnII;-BfuCI;-DpnI; - - DNA SEQ - - ? - PubMed: Garcia-Garcia 2011 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 48 c.9430G>A r.(?) p.(Asp3144Asn) Fibronectin type-III 18 (3110-3200) Unknown - benign g.215990479C>T g.215817137C>T - - USH2A_000086 Heterozygous; Neutral PubMed: Garcia-Garcia 2011, USMA missense analysis, missense variant in MSV3d - rs11120645 Germline - - -Sau3AI;-DpnII;-BfuCI;-DpnI; - - DNA SEQ - - USH - PubMed: Garcia-Garcia 2011 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 48 c.9430G>A r.(?) p.(Asp3144Asn) Fibronectin type-III 18 (3110-3200) Unknown - benign g.215990479C>T g.215817137C>T - - USH2A_000086 Heterozygous; Neutral PubMed: Garcia-Garcia 2011, USMA missense analysis, missense variant in MSV3d - rs11120645 Germline - - -Sau3AI;-DpnII;-BfuCI;-DpnI; - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 48 c.9430G>A r.(?) p.(Asp3144Asn) Fibronectin type-III 18 (3110-3200) Unknown - benign g.215990479C>T g.215817137C>T - - USH2A_000086 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs11120645 Germline - - -Sau3AI;-DpnII;-BfuCI;-DpnI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 48 c.9430G>A r.(?) p.(Asp3144Asn) Fibronectin type-III 18 (3110-3200) Unknown - benign g.215990479C>T g.215817137C>T - - USH2A_000086 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs11120645 Germline - - -Sau3AI;-DpnII;-BfuCI;-DpnI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 48 c.9430G>A r.(?) p.(Asp3144Asn) Fibronectin type-III 18 (3110-3200) Unknown - benign g.215990479C>T g.215817137C>T - - USH2A_000086 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs11120645 Germline - - -Sau3AI;-DpnII;-BfuCI;-DpnI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/. - c.9430G>A r.(?) p.(Asp3144Asn) - Parent #1 - benign g.215990479C>T g.215817137C>T - - USH2A_000086 13 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs11120645 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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