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.
Legend   How to query  

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.9595A>G r.(?) p.(Asn3199Asp) - Unknown - benign g.215987222T>C g.215813880T>C - - USH2A_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 49 c.9595A>G r.(?) p.(Asn3199Asp) Cystein rich (3192-3358) Unknown - benign g.215987222T>C g.215813880T>C - - USH2A_000072 Heterozygous; non causative PubMed: Rong 2014, USMA missense analysis, missense variant in MSV3d - rs4129843 Germline - - none - - 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
-/- 49 c.9595A>G r.(?) p.(Asn3199Asp) Cystein rich (3192-3358) Unknown - benign g.215987222T>C g.215813880T>C - - USH2A_000072 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs4129843 Germline - - none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 49 c.9595A>G r.(?) p.(Asn3199Asp) Cystein rich (3192-3358) Unknown - benign g.215987222T>C g.215813880T>C - - USH2A_000072 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs4129843 Germline - - none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 49 c.9595A>G r.(?) p.(Asn3199Asp) Cystein rich (3192-3358) Unknown - benign g.215987222T>C g.215813880T>C - - USH2A_000072 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs4129843 Germline - - none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 49 c.9595A>G r.(?) p.(Asn3199Asp) Cystein rich (3192-3358) Paternal (inferred) - benign g.215987222T>C g.215813880T>C - - USH2A_000072 Homozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs4129843 Germline - - none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 49 c.9595A>G r.(?) p.(Asn3199Asp) Cystein rich (3192-3358) Maternal (inferred) - benign g.215987222T>C g.215813880T>C - - USH2A_000072 Homozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs4129843 Germline - - none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 49 c.9595A>G r.(?) p.(Asn3199Asp) Cystein rich (3192-3358) Unknown - benign g.215987222T>C g.215813880T>C - - USH2A_000072 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs4129843 Germline - - none - - DNA SEQ - - USH3 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 49 c.9595A>G r.(?) p.(Asn3199Asp) Cystein rich (3192-3358) Unknown - benign g.215987222T>C g.215813880T>C - - USH2A_000072 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs4129843 Germline - - none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 49 c.9595A>G r.(?) p.(Asn3199Asp) Cystein rich (3192-3358) Unknown - benign g.215987222T>C g.215813880T>C - - USH2A_000072 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs4129843 Germline - - none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 49 c.9595A>G r.(?) p.(Asn3199Asp) Cystein rich (3192-3358) Unknown - benign g.215987222T>C g.215813880T>C - - USH2A_000072 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs4129843 Germline - - none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 49 c.9595A>G r.(?) p.(Asn3199Asp) Cystein rich (3192-3358) Unknown - benign g.215987222T>C g.215813880T>C - - USH2A_000072 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs4129843 Germline - - none - - DNA SEQ - - USH1 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 49 c.9595A>G r.(?) p.(Asn3199Asp) Cystein rich (3192-3358) Unknown - benign g.215987222T>C g.215813880T>C - - USH2A_000072 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs4129843 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 49 c.9595A>G r.(?) p.(Asn3199Asp) Cystein rich (3192-3358) Unknown - benign g.215987222T>C g.215813880T>C - - USH2A_000072 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs4129843 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 49 c.9595A>G r.(?) p.(Asn3199Asp) Cystein rich (3192-3358) Unknown - benign g.215987222T>C g.215813880T>C - - USH2A_000072 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs4129843 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 49 c.9595A>G r.(?) p.(Asn3199Asp) Cystein rich (3192-3358) Unknown - benign g.215987222T>C g.215813880T>C - - USH2A_000072 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs4129843 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 49 c.9595A>G r.(?) p.(Asn3199Asp) Cystein rich (3192-3358) Unknown - benign g.215987222T>C g.215813880T>C - - USH2A_000072 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs4129843 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Relative M - France - - - - - 1 Anne-Françoise Roux
-/- 49 c.9595A>G r.(?) p.(Asn3199Asp) Cystein rich (3192-3358) Unknown - benign g.215987222T>C g.215813880T>C - - USH2A_000072 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs4129843 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 49 c.9595A>G r.(?) p.(Asn3199Asp) Cystein rich (3192-3358) Paternal (inferred) - benign g.215987222T>C g.215813880T>C - - USH2A_000072 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs4129843 Germline - - none - - DNA minigene, SEQ - - USH2 - PubMed: Baux 2014 Proband F - Austria - - - - - 1 Anne-Françoise Roux
-/- 49 c.9595A>G r.(?) p.(Asn3199Asp) Cystein rich (3192-3358) Maternal (inferred) - benign g.215987222T>C g.215813880T>C - - USH2A_000072 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs4129843 Germline - - none - - DNA minigene, SEQ - - USH2 - PubMed: Baux 2014 Proband F - Austria - - - - - 1 Anne-Françoise Roux
-/- 49 c.9595A>G r.(?) p.(Asn3199Asp) Cystein rich (3192-3358) Unknown - benign g.215987222T>C g.215813880T>C - - USH2A_000072 Heterozygous USMA missense analysis, missense variant in MSV3d - rs4129843 Germline - - none - - DNA minigene, SEQ, SEQ-NG-S - - USH2 - Liquori accepted Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 49 c.9595A>G r.(?) p.(Asn3199Asp) Cystein rich (3192-3358) Unknown - benign g.215987222T>C g.215813880T>C - - USH2A_000072 Heterozygous PubMed: Le Guédard-Méreuze 2010, USMA missense analysis, missense variant in MSV3d - rs4129843 Germline - - none - - DNA minigene, SEQ - - USH2 - PubMed: Le Guédard-Méreuze 2010 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 49 c.9595A>G r.(?) p.(Asn3199Asp) Cystein rich (3192-3358) Unknown - benign g.215987222T>C g.215813880T>C - - USH2A_000072 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs4129843 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 49 c.9595A>G r.(?) p.(Asn3199Asp) Cystein rich (3192-3358) Unknown - benign g.215987222T>C g.215813880T>C - - USH2A_000072 Heterozygous; benign PubMed: McGee 2010, USMA missense analysis, missense variant in MSV3d - rs4129843 Germline - - none - - DNA SEQ - - USH2 - PubMed: McGee 2010 Proband - No genotype in the publication - - United States - - - - - 9 Anne-Françoise Roux
-/- 49 c.9595A>G r.(?) p.(Asn3199Asp) Cystein rich (3192-3358) Unknown - benign g.215987222T>C g.215813880T>C - - USH2A_000072 Heterozygous; benign PubMed: McGee 2010, USMA missense analysis, missense variant in MSV3d - rs4129843 Germline - - none - - DNA SEQ - - RPar - PubMed: McGee 2010 Proband - No genotype in the publication - - United States - - - - - 3 Anne-Françoise Roux
-/- 49 c.9595A>G r.(?) p.(Asn3199Asp) Cystein rich (3192-3358) Unknown - benign g.215987222T>C g.215813880T>C - - USH2A_000072 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs4129843 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 49 c.9595A>G r.(?) p.(Asn3199Asp) Cystein rich (3192-3358) Unknown - benign g.215987222T>C g.215813880T>C - - USH2A_000072 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs4129843 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 49 c.9595A>G r.(?) p.(Asn3199Asp) Cystein rich (3192-3358) Unknown - benign g.215987222T>C g.215813880T>C - - USH2A_000072 Heterozygous; Neutral PubMed: Garcia-Garcia 2011, USMA missense analysis, missense variant in MSV3d - rs4129843 Germline - - none - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 49 c.9595A>G r.(?) p.(Asn3199Asp) Cystein rich (3192-3358) Unknown - benign g.215987222T>C g.215813880T>C - - USH2A_000072 Heterozygous; Neutral PubMed: Garcia-Garcia 2011, USMA missense analysis, missense variant in MSV3d - rs4129843 Germline - - none - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 49 c.9595A>G r.(?) p.(Asn3199Asp) Cystein rich (3192-3358) Unknown - benign g.215987222T>C g.215813880T>C - - USH2A_000072 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs4129843 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 49 c.9595A>G r.(?) p.(Asn3199Asp) Cystein rich (3192-3358) Unknown - benign g.215987222T>C g.215813880T>C - - USH2A_000072 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs4129843 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 49 c.9595A>G r.(?) p.(Asn3199Asp) Cystein rich (3192-3358) Unknown - benign g.215987222T>C g.215813880T>C - - USH2A_000072 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs4129843 Germline - - none - - DNA arrayCGH, SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 49 c.9595A>G r.(?) p.(Asn3199Asp) Cystein rich (3192-3358) Paternal (inferred) - benign g.215987222T>C g.215813880T>C - - USH2A_000072 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs4129843 Germline - - none - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Baux 2014 Proband M - Haiti - - - - - 1 Anne-Françoise Roux
-/- 49 c.9595A>G r.(?) p.(Asn3199Asp) Cystein rich (3192-3358) Maternal (inferred) - benign g.215987222T>C g.215813880T>C - - USH2A_000072 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs4129843 Germline - - none - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Baux 2014 Proband M - Haiti - - - - - 1 Anne-Françoise Roux
-/- 49 c.9595A>G r.(?) p.(Asn3199Asp) Cystein rich (3192-3358) Maternal (confirmed) - benign g.215987222T>C g.215813880T>C - - USH2A_000072 Hemizygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs4129843 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 49 c.9595A>G r.(?) p.(Asn3199Asp) Cystein rich (3192-3358) Unknown - benign g.215987222T>C g.215813880T>C - - USH2A_000072 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs4129843 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/. - c.9595A>G r.(?) p.(Asn3199Asp) - Unknown - benign g.215987222T>C g.215813880T>C - - USH2A_000072 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs4129843 Germline - 277/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 277 Yoshito Koyanagi
-/. - c.9595A>G r.(?) p.(Asn3199Asp) - Both (homozygous) - benign g.215987222T>C g.215813880T>C - - USH2A_000072 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs4129843 Germline - 21/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 21 Yoshito Koyanagi
Legend   How to query  

All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.