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.

24 entries on 1 page. Showing entries 1 - 24.
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     
+/+ 21 c.4474G>T r.(?) p.(Glu1492*) - Unknown - pathogenic g.216348747C>A g.216175405C>A - - USH2A_000200 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - - Germline - - -AcuI;-MboII; - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 21 c.4474G>T r.(?) p.(Glu1492*) - Parent #2 - pathogenic g.216348747C>A g.216175405C>A - - USH2A_000200 Heterozygous PubMed: Bernal 2005 - - Germline - - -AcuI;-MboII; - - DNA SEQ - - USH2 - PubMed: Bernal 2005 Proband M - Spain - - - - - 1 Anne-Françoise Roux
+/+ 21 c.4474G>T r.(?) p.(Glu1492*) - Parent #2 - pathogenic g.216348747C>A g.216175405C>A - - USH2A_000200 Heterozygous PubMed: Bernal 2005 - - Germline - - -AcuI;-MboII; - - DNA SEQ - - USH2 - PubMed: Bernal 2005 Relative M - Spain - - - - - 1 Anne-Françoise Roux
+/+ 21 c.4474G>T r.(?) p.(Glu1492*) - Paternal (confirmed) - pathogenic g.216348747C>A g.216175405C>A - - USH2A_000200 Heterozygous PubMed: Baux 2014 - - Germline - - -AcuI;-MboII; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
+/+ 21 c.4474G>T r.(?) p.(Glu1492*) - Maternal (confirmed) - pathogenic g.216348747C>A g.216175405C>A - - USH2A_000200 Heterozygous PubMed: Baux 2014 - - Germline - - -AcuI;-MboII; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
+/+ 21 c.4474G>T r.(?) p.(Glu1492*) - Unknown - pathogenic g.216348747C>A g.216175405C>A - - USH2A_000200 Heterozygous PubMed: Baux 2014 - - Germline - - -AcuI;-MboII; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
+/+ 21 c.4474G>T r.(?) p.(Glu1492*) - Paternal (inferred) - pathogenic g.216348747C>A g.216175405C>A - - USH2A_000200 Homozygous; Pathogenic PubMed: Garcia-Garcia 2011 - - Germline - - -AcuI;-MboII; - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband F - Spain - - - - - 1 Jose Maria Millan
+/+ 21 c.4474G>T r.(?) p.(Glu1492*) - Maternal (inferred) - pathogenic g.216348747C>A g.216175405C>A - - USH2A_000200 Homozygous; Pathogenic PubMed: Garcia-Garcia 2011 - - Germline - - -AcuI;-MboII; - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband F - Spain - - - - - 1 Jose Maria Millan
+/+ 21 c.4474G>T r.(?) p.(Glu1492*) - Paternal (inferred) - pathogenic g.216348747C>A g.216175405C>A - - USH2A_000200 Homozygous; Pathogenic PubMed: Garcia-Garcia 2011 - - Germline - - -AcuI;-MboII; - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband M - Spain - - - - - 1 Jose Maria Millan
+/+ 21 c.4474G>T r.(?) p.(Glu1492*) - Maternal (inferred) - pathogenic g.216348747C>A g.216175405C>A - - USH2A_000200 Homozygous; Pathogenic PubMed: Garcia-Garcia 2011 - - Germline - - -AcuI;-MboII; - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband M - Spain - - - - - 1 Jose Maria Millan
+/+ 21 c.4474G>T r.(?) p.(Glu1492*) - Maternal (confirmed) - pathogenic g.216348747C>A g.216175405C>A - - USH2A_000200 Heterozygous PubMed: Baux 2014 - - Germline - - -AcuI;-MboII; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
+?/? 21 c.4474G>T r.(?) p.(Glu1492*) - Parent #1 - pathogenic g.216348747C>A g.216175405C>A - - USH2A_000200 Heterozygous PubMed: Aparisi 2014 - - Germline - - -AcuI;-MboII; - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Aparisi 2014 Proband - - Spain - - - - - 1 Anne-Françoise Roux
+/+ 21 c.4474G>T r.(?) p.Glu1492* - Parent #1 - pathogenic g.216348747C>A g.216175405C>A - - USH2A_000200 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband F - Italy - - - - - 1 Crystel Bonnet
+/. - c.4474G>T r.(?) p.(Glu1492Ter) - Parent #1 - pathogenic g.216348747C>A g.216175405C>A - - USH2A_000200 - PubMed: Bravo-Gil 2016 - - Germline - - - - - DNA SEQ-NG - 64-gene panel retinal disease 236 PubMed: Bravo-Gil 2016 see paper - - Spain - - - - - 1 LOVD
+?/. - c.4474G>T r.(?) p.(Glu1492*) - Unknown - likely pathogenic g.216348747C>A g.216175405C>A c.4474G>T p.(Glu1492*), c.5614delGins12 p.(Ala1872Leufs) - USH2A_000200 - PubMed: Hagag 2020 - - Germline/De novo (untested) ? - - - - DNA ? - - retinal disease Subject 022 PubMed: Hagag 2020 - ? - - - - - - - 1 LOVD
+?/. - c.4474G>T r.(?) p.(Glu1492*) - Unknown - likely pathogenic g.216348747C>A g.216175405C>A c.4474G>T p.(Glu1492*), c.5614delGins12 p.(Ala1872Leufs) - USH2A_000200 - PubMed: Hagag 2020 - - Germline/De novo (untested) ? - - - - DNA ? - - retinal disease Subject 026 PubMed: Hagag 2020 - ? - - - - - - - 1 LOVD
+/. - c.4474G>T r.(?) p.(Glu1492Ter) - Unknown ACMG pathogenic g.216348747C>A - - - USH2A_000200 - PubMed: Mansard et al, 2021 - rs869312179 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+/. - c.4474G>T r.(?) p.(Glu1492Ter) - Unknown ACMG pathogenic g.216348747C>A - - - USH2A_000200 - PubMed: Mansard et al, 2021 - rs869312179 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - M - - - - - - - 1 Anne-Françoise Roux
+/. - c.4474G>T r.(?) p.(Glu1492Ter) - Maternal (confirmed) ACMG pathogenic g.216348747C>A - - - USH2A_000200 - PubMed: Mansard et al, 2021 - rs869312179 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+/. - c.4474G>T r.(?) p.(Glu1492Ter) - Paternal (confirmed) ACMG pathogenic g.216348747C>A - - - USH2A_000200 - PubMed: Mansard et al, 2021 - rs869312179 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+/. - c.4474G>T r.(?) p.(Glu1492Ter) - Parent #1 - pathogenic g.216348747C>A g.216175405C>A - - USH2A_000200 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WGS retinal disease 09006916 PubMed: Ellingford 2016 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. - c.4474G>T r.(?) p.(Glu1492*) - Parent #1 - likely pathogenic g.216348747C>A g.216175405C>A USH2A c.4474G>T, p.(Glu1492) - USH2A_000200 heterozygous PubMed: Molina-Ramirez 2020 - - Unknown ? - - - - DNA SEQ-NG-I - 14 patients: 105-gene panel, 13 samples: 176-gene panel using previously described method (O', Sullivan J et al. 2012) USH 11013807 PubMed: Molina-Ramirez 2020 - F - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.4474G>T r.(?) p.(Glu1492*) - Parent #1 - likely pathogenic g.216348747C>A g.216175405C>A USH2A c.4474G>T - USH2A_000200 protein variant annotation not written; heterozygous PubMed: Toms 2020 - - Unknown ? - - - - ? ? - retrospective cohort retinal disease 14 PubMed: Toms 2020 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. - c.4474G>T r.(?) p.(Glu1492Ter) - Unknown ACMG pathogenic g.216348747C>A g.216175405C>A - - USH2A_000200 ACMG GN005 criteria: PVS1_VS PM2_P PM3_S PP1_P PubMed: Molina-Ramirez, L. P. et al., 2020; PubMed: Bonnet, C. et al., 2016; PubMed: Le Quesne Stabej, P. et al., 2012; PubMed: Garcia-Garcia, G. et al., 2011; PubMed: Mansard, L. et al., 2021; PubMed: Aparisi, M. J. et al., 2014; PubMed: Bravo-Gil, N. et al., 2016 - rs869312179 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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.