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.

20 entries on 1 page. Showing entries 1 - 20.
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Effect     

Exon     

AscendingDNA change (cDNA)     

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DNA change (hg38)     

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+/+ 63 c.13374del r.(?) p.(Glu4458Aspfs*3) Fibronectin type-III 30 (4444-4528) Unknown - pathogenic g.215847880del g.215674538del 13374delA - USH2A_000056 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - - Germline - - +BfuCI;+DpnII;+DpnI;+MboI;-TfiI;-HinfI; - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 63 c.13374del r.(?) p.(Glu4458Aspfs*3) Fibronectin type-III 30 (4444-4528) Parent #1 - pathogenic g.215847880del g.215674538del 13374delA - USH2A_000056 Heterozygous PubMed: Baux 2007 - - Germline - - +BfuCI;+DpnII;+DpnI;+MboI;-TfiI;-HinfI; - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - France - - - - - 1 Anne-Françoise Roux
+/+ 63 c.13374del r.(?) p.(Glu4458Aspfs*3) Fibronectin type-III 30 (4444-4528) Paternal (confirmed) - pathogenic g.215847880del g.215674538del 13374delA - USH2A_000056 Heterozygous PubMed: Baux 2014 - - Germline - - +BfuCI;+DpnII;+DpnI;+MboI;-TfiI;-HinfI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
+/+ 63 c.13374del r.(?) p.(Glu4458Aspfs*3) Fibronectin type-III 30 (4444-4528) Unknown - pathogenic g.215847880del g.215674538del 13374delA - USH2A_000056 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - - Germline - - +BfuCI;+DpnII;+DpnI;+MboI;-TfiI;-HinfI; - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 63 c.13374del r.(?) p.(Glu4458Aspfs*3) Fibronectin type-III 30 (4444-4528) Parent #2 - pathogenic g.215847880del g.215674538del 13374delA - USH2A_000056 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband F - Germany - - - - - 1 Crystel Bonnet
+/+ 63 c.13374del r.(?) p.(Glu4458Aspfs*3) Fibronectin type-III 30 (4444-4528) Parent #2 - pathogenic g.215847880del g.215674538del 13374delA - USH2A_000056 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband F - Germany - - - - - 1 Crystel Bonnet
+/+ 63 c.13374del r.(?) p.(Glu4458Aspfs*3) Fibronectin type-III 30 (4444-4528) Parent #2 - pathogenic g.215847880del g.215674538del 13374delA - USH2A_000056 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - France - - - - - 1 Crystel Bonnet
+/+ 63 c.13374del r.(?) p.(Glu4458Aspfs*3) Fibronectin type-III 30 (4444-4528) Parent #1 - pathogenic g.215847880del g.215674538del 13374delA - USH2A_000056 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Slovenia - - - - - 1 Crystel Bonnet
+/. 63 c.13374del r.(?) p.(Glu4458Aspfs*3) Fibronectin type-III 30 (4444-4528) Both (homozygous) - pathogenic (recessive) g.215847879del - 13374delA - USH2A_000056 - PubMed: Ivanova 2018 - - Germline - - +BfuCI;+DpnII;+DpnI;+MboI;-TfiI;-HinfI; - - DNA SEQ-NG-S - - USH2 Pat20 PubMed: Ivanova 2018 Proband F - Russian Federation Slavonian - - - - 1 Vladimir Strelnikov
+/. - c.13374del r.(?) p.(Glu4458Aspfs*3) - Unknown - pathogenic (recessive) g.215847879del - 1:215847878AT>A ENST00000307340.3:c.13374delA (Glu4458AspfsTer3) - USH2A_000056 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease W000369 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+?/. - c.13374del r.(?) p.(Glu4458Aspfs*3) - Parent #1 - likely pathogenic g.215847880del g.215674538del USH2A, variant 1: c.2299del/p.E767Sfs*21, variant 2: c.13374del/p.E4458Dfs*3 - USH2A_000056 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ blood Sanger sequencing retinal disease 3 PubMed: Weisschuh 2020 Filing key number: 2, Usher syndrome type 2, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.13374del r.(?) p.(Glu4458Aspfs*3) - Parent #1 - likely pathogenic g.215847880del g.215674538del USH2A, variant 1: c.2299del/p.E767Sfs*21, variant 2: c.13374del/p.E4458Dfs*3 - USH2A_000056 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET5 targeted sequencing panel - see paper retinal disease 4 PubMed: Weisschuh 2020 Filing key number: 2, Usher syndrome type 2, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.13374del r.(?) p.(Glu4458Aspfs*3) - Parent #1 - likely pathogenic g.215847880del g.215674538del USH2A, variant 1: c.11864G>A/p.W3955*, variant 2: c.13374del/p.E4458Dfs*3 - USH2A_000056 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET4 targeted sequencing panel - see paper retinal disease 614 PubMed: Weisschuh 2020 Filing key number: 220, Usher syndrome type 2, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+/. - c.13374del r.(?) p.(Glu4458Aspfs*3) - Unknown - pathogenic g.215847880del g.215674538del USH2A c.13374delA, p.Glu4458AspfsTer3 - USH2A_000056 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease W000369 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - 1 LOVD
+/. 63 c.13374del r.(?) p.(Glu4458Aspfs*3) - Unknown - pathogenic (recessive) g.215847879del - c.13374del - USH2A_000056 - PubMed: Colombo-2020 - rs727503715 Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - M no - - - - - - 1 LOVD
+?/. - c.13374del r.(?) p.(Glu4458Aspfs*3) - Parent #1 - likely pathogenic g.215847880del g.215674538del USH2A c.13374del - USH2A_000056 protein variant annotation not written; heterozygous PubMed: Toms 2020 - - Unknown ? - - - - ? ? - retrospective cohort retinal disease 45 PubMed: Toms 2020 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. - c.13374del r.(?) p.(Glu4458AspfsTer3) - Unknown ACMG pathogenic g.215847880del g.215674538del 13374delA - USH2A_000056 ACMG GN005 criteria: PVS1_VS PM2_P PM3_VS PP1_P PubMed: Bonnet, C. et al., 2016; PubMed: Le Quesne Stabej, P. et al., 2012; PubMed: Colombo, L. et al., 2022; PubMed: Mansard, L. et al., 2021 - rs727503715 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.13374del r.(?) p.(Glu4458AspfsTer3) - Parent #1 - pathogenic g.215847880del g.215674538del 13374delA - USH2A_000056 - PubMed: Midgley 2024 - rs727503715 Germline - - - - - DNA SEQ-NG - gene panel retinal disease Pat33 PubMed: Midgley 2024 - M - South Africa white - - - - 1 Johan den Dunnen
+/. - c.13374delA r.(?) p.(Glu4458AspfsTer3) - Unknown ACMG pathogenic g.215847879del - - - USH2A_000056 - PubMed: Mansard et al, 2021 - rs727503715 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - M - - - - - - - 1 Anne-Françoise Roux
+/. 63 c.13374delA r.(?) p.(Glu4458Aspfs*3) - Parent #2 - pathogenic g.215847879delT - c.13374delA - USH2A_000056 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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