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.

22 entries on 1 page. Showing entries 1 - 22.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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DB-ID     

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Reference     

ClinVar ID     

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Disease     

ID_report     

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Owner     
+/? 40i c.7595-3C>G r.(7594_7595ins7995-2_7595-1) p.(Pro2533Asnfs*5) Fibronectin type-III 12 (2533-2619) Unknown ACMG likely pathogenic g.216062399G>C g.215889057G>C - - USH2A_000101 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - - Germline - 0/878 controls -AlwNI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/? 40i c.7595-3C>G r.(7594_7595ins7995-2_7595-1) p.(Pro2533Asnfs*5) Fibronectin type-III 12 (2533-2619) Unknown ACMG likely pathogenic g.216062399G>C g.215889057G>C - - USH2A_000101 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - - Germline - 0/878 controls -AlwNI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/? 40i c.7595-3C>G r.7594_7595ins7995-2_7595-1 p.Pro2533Asnfs*5 Fibronectin type-III 12 (2533-2619) Unknown ACMG likely pathogenic g.216062399G>C g.215889057G>C - - USH2A_000101 Heterozygous; ins last 2 nt IVS 40 (Le Guédard-Méreuze , 2010) PubMed: Baux 2007 - - Germline - 0/100 controls -AlwNI - - DNA minigene, SEQ - - USH2 - PubMed: Baux 2007 Proband F - France - - - - - 1 Anne-Françoise Roux
+/? 40i c.7595-3C>G r.7594_7595ins7995-2_7595-1 p.Pro2533Asnfs*5 Fibronectin type-III 12 (2533-2619) Unknown ACMG likely pathogenic g.216062399G>C g.215889057G>C - - USH2A_000101 Heterozygous; ins last 2 nt IVS 40 PubMed: Le Guédard-Méreuze 2010 - - Germline - 0/200 controls -AlwNI - - DNA minigene, SEQ - - USH2 - PubMed: Le Guédard-Méreuze 2010 Proband M - France - - - - - 1 Anne-Françoise Roux
+/? 40i c.7595-3C>G r.(7594_7595ins7995-2_7595-1) p.(Pro2533Asnfs*5) Fibronectin type-III 12 (2533-2619) Paternal (confirmed) ACMG likely pathogenic g.216062399G>C g.215889057G>C - - USH2A_000101 Heterozygous PubMed: Baux 2014 - - Germline - 0/100 controls -AlwNI - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
+/? 40i c.7595-3C>G r.(7594_7595ins7995-2_7595-1) p.(Pro2533Asnfs*5) Fibronectin type-III 12 (2533-2619) Unknown ACMG likely pathogenic g.216062399G>C g.215889057G>C - - USH2A_000101 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - - Germline - 0/878 controls -AlwNI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+?/? 40i c.7595-3C>G r.(7594_7595ins7995-2_7595-1) p.(Pro2533Asnfs*5) Fibronectin type-III 12 (2533-2619) Maternal (confirmed) ACMG likely pathogenic g.216062399G>C g.215889057G>C - - USH2A_000101 Heterozygous PubMed: Baux 2014 - - Germline - 0/100 controls -AlwNI - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
+?/? 40i c.7595-3C>G r.7594_7595ins7995-2_7595-1 p.Pro2533Asnfs*5 Fibronectin type-III 12 (2533-2619) Unknown ACMG likely pathogenic g.216062399G>C g.215889057G>C - - USH2A_000101 Heterozygous PubMed: Lenassi 2015 - - Germline - - -AlwNI - - DNA SEQ - - RPar - PubMed: Lenassi 2015 Proband - - United Kingdom (Great Britain) - - - - - 1 Eva Lenassi
+/? 40i c.7595-3C>G r.7594_7595ins7995-2_7595-1 p.Pro2533Asnfs*5 Fibronectin type-III 12 (2533-2619) Parent #1 ACMG likely pathogenic g.216062399G>C g.215889057G>C - - USH2A_000101 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - France - - - - - 1 Crystel Bonnet
+/. - c.7595-3C>G r.spl? p.? - Unknown - pathogenic (recessive) g.216062399G>C - 1:216062399G>C ENST00000307340.3:c.7595-3C>G - USH2A_000101 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G001034 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+/. - c.7595-3C>G r.spl p.? - Parent #2 - pathogenic g.216062399G>C g.215889057G>C - - USH2A_000101 - PubMed: Comander 2017 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease Pat30 PubMed: Comander 2017 proband F - United States - - - - - 1 Johan den Dunnen
+?/. - c.7595-3C>G r.spl p.? - Unknown - likely pathogenic g.216062399G>C g.215889057G>C - - USH2A_000101 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 13013364 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+?/. - c.7595-3C>G r.spl p.? - Unknown - likely pathogenic g.216062399G>C g.215889057G>C - - USH2A_000101 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 13015666 PubMed: Ellingford 2016 familial segregation analysis requested - - - - - - - - 1 LOVD
+/. 40i c.7595-3C>G r.(7594_7595ins7995-2_7595-1) p.(Pro2533Asnfs*5) - Parent #2 ACMG pathogenic g.216062399G>C g.215889057G>C - - USH2A_000101 - Journal: Reurink 2021 - - Germline no - - - - DNA SEQ-NG - gene panel retinal disease W19-0924 Journal: Reurink 2021 - - - - - - - - - 1 Janine Reurink
+?/. - c.7595-3C>G r.(?) p.(Pro2533AsnfsTer5) - Unknown ACMG likely pathogenic g.216062399G>C - - - USH2A_000101 - PubMed: Mansard et al, 2021 - rs201657446 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - M - - - - - - - 1 Anne-Françoise Roux
+?/. - c.7595-3C>G r.(?) p.(Pro2533AsnfsTer5) - Paternal (confirmed) ACMG likely pathogenic g.216062399G>C - - - USH2A_000101 - PubMed: Mansard et al, 2021 - rs201657446 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+?/. - c.7595-3C>G r.spl p.(?) - Unknown - likely pathogenic g.216062399G>C g.215889057G>C USH2A c.7595-3C>G, - USH2A_000101 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G001034 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.7595-3C>G r.(?) p.(Pro2533Asnfs*5) - Parent #2 - likely pathogenic g.216062399G>C g.215889057G>C USH2A c.75953C>G, p.(Pro2533Asnfs5) - USH2A_000101 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) retinal disease 13015666 PubMed: Molina-Ramirez 2020 - M - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.7595-3C>G r.(?) p.(?) - Parent #1 - likely pathogenic g.216062399G>C g.215889057G>C USH2A c.7595-3C>G - USH2A_000101 no protein annotation written; heterozygous PubMed: Charng 2020 - - Germline yes - - - - DNA SEQ-NG-I blood NGS SmartPanel (version 4 or 7, 183 or 233 genes) retinal disease 11 PubMed: Charng 2020 - F - Australia - - - - - 1 LOVD
+/. - c.7595-3C>G r.spl p.(Pro2533Asnfs*5) - Parent #2 ACMG pathogenic g.216062399G>C g.215889057G>C USH2A c.7595-3C>G, p.(Pro2533Asnfs*5) - USH2A_000101 heterozygous PubMed: Reurink 2021 - - Unknown ? - - - - DNA SEQ-NG-I - molecular inversion probe-based sequencing retinal disease W19-0924 PubMed: Reurink 2021 genetically unexplained subjects from centers in the Netherlands, Ireland and Poland ? - Netherlands - - - - - 1 LOVD
+/. 40i c.7595-3C>G r.spl? p.(Pro2533Asnfs*5) - Parent #2 - pathogenic g.216062399G>C - c.7595-3C>G - USH2A_000101 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+?/. - c.7595-3C>G r.spl p.? - Unknown ACMG likely pathogenic g.216062399G>C g.215889057G>C - - USH2A_000101 ACMG GN005 criteria: PM2_P PM3_VS PubMed: Lenassi, E. et al., 2015; PubMed: Molina-Ramirez, L. P. et al., 2020; PubMed: Reurink, J. et al., 2021; PubMed: Bonnet, C. et al., 2016; PubMed: Le Quesne Stabej, P. et al., 2012; PubMed: Mansard, L. et al., 2021; PubMed: Sloan-Heggen, C. M. et al., 2016 - rs201657446 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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