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.

25 entries on 1 page. Showing entries 1 - 25.
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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     

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Disease     

ID_report     

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Gender     

Consanguinity     

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VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ 2 c.100C>T r.(?) p.(Arg34*) - Unknown - pathogenic g.216595579G>A g.216422237G>A - - USH2A_000165 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - - Germline - 0/878 controls +FatI;+BspHI;+NlaIII;+CviAII;-BssSI;-Tsp45I; - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 2 c.100C>T r.(?) p.(Arg34*) - Unknown - pathogenic g.216595579G>A g.216422237G>A - - USH2A_000165 Heterozygous PubMed: Dreyer 2000 - - Germline - - +FatI;+BspHI;+NlaIII;+CviAII;-BssSI;-Tsp45I; - - DNA SEQ - - USH2 - PubMed: Dreyer 2000 Proband - - Norway - - - - - 1 Anne-Françoise Roux
+/+ 2 c.100C>T r.(?) p.(Arg34*) - Parent #1 - pathogenic g.216595579G>A g.216422237G>A - - USH2A_000165 Heterozygous PubMed: Dreyer 2000 - - Germline - - +FatI;+BspHI;+NlaIII;+CviAII;-BssSI;-Tsp45I; - - DNA SEQ - - USH2 - PubMed: Dreyer 2000 Proband - - Norway - - - - - 1 Anne-Françoise Roux
+/+ 2 c.100C>T r.(?) p.(Arg34*) - Parent #2 - pathogenic g.216595579G>A g.216422237G>A - - USH2A_000165 Heterozygous PubMed: Jaijo 2010 - - Germline - - +FatI;+BspHI;+NlaIII;+CviAII;-BssSI;-Tsp45I; - - DNA SEQ - - USH2 - PubMed: Jaijo 2010 Proband F - Spain - - - - - 1 Jose Maria Millan
+/+ 2 c.100C>T r.(?) p.(Arg34*) - Parent #2 - pathogenic g.216595579G>A g.216422237G>A - - USH2A_000165 Heterozygous PubMed: Bernal 2005 - - Germline - - +FatI;+BspHI;+NlaIII;+CviAII;-BssSI;-Tsp45I; - - DNA SEQ - - USH2 - PubMed: Bernal 2005 Proband M - Spain - - - - - 1 Anne-Françoise Roux
+/+ 2 c.100C>T r.(?) p.(Arg34*) - Parent #2 - pathogenic g.216595579G>A g.216422237G>A - - USH2A_000165 Heterozygous PubMed: Bernal 2005 - - Germline - - +FatI;+BspHI;+NlaIII;+CviAII;-BssSI;-Tsp45I; - - DNA SEQ - - USH2 - PubMed: Bernal 2005 Relative F - Spain - - - - - 1 Anne-Françoise Roux
+/+ 2 c.100C>T r.(?) p.(Arg34*) - Paternal (confirmed) - pathogenic g.216595579G>A g.216422237G>A - - USH2A_000165 Heterozygous PubMed: Baux 2014 - - Germline - - +FatI;+BspHI;+NlaIII;+CviAII;-BssSI;-Tsp45I; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
+/+ 2 c.100C>T r.(?) p.(Arg34*) - Unknown - pathogenic g.216595579G>A g.216422237G>A - - USH2A_000165 Heterozygous; mutation PubMed: Krawitz 2014 - - Germline - - +FatI;+BspHI;+NlaIII;+CviAII;-BssSI;-Tsp45I; - - DNA SEQ-NG-S - - USH2 - PubMed: Krawitz 2014 Proband M - Germany - - - - - 1 Peter Krawitz
+/+ 2 c.100C>T r.(?) p.(Arg34*) - Parent #2 - pathogenic g.216595579G>A g.216422237G>A - - USH2A_000165 Heterozygous; mutation PubMed: Jiang 2015 - - Germline - - +FatI;+BspHI;+NlaIII;+CviAII;-BssSI;-Tsp45I; - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Jiang 2015 Proband M - China - - - - - 1 Anne-Françoise Roux
+/+ 2 c.100C>T r.(?) p.(Arg34*) - Parent #2 - pathogenic g.216595579G>A g.216422237G>A - - USH2A_000165 Heterozygous; mutation PubMed: Jiang 2015 - - Germline - - +FatI;+BspHI;+NlaIII;+CviAII;-BssSI;-Tsp45I; - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Jiang 2015 Proband M - China - - - - - 1 Anne-Françoise Roux
+/+ 2 c.100C>T r.(?) p.(Arg34*) - Parent #1 - pathogenic g.216595579G>A g.216422237G>A - - USH2A_000165 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - France - - - - - 1 Crystel Bonnet
+/+ 2 c.100C>T r.(?) p.(Arg34*) - Parent #1 - pathogenic g.216595579G>A g.216422237G>A - - USH2A_000165 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - France - - - - - 1 Crystel Bonnet
+?/. - c.100C>T r.(?) p.(Arg34*) - Parent #1 - likely pathogenic g.216595579G>A - - - USH2A_000165 - PubMed: Holtan 2020 - - Germline - 1/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 1 patient with variant in heterozygous or compound heterozygous form - - Norway - - - - - 1 Global Variome, with Curator vacancy
+/. - c.100C>T r.(?) p.(Arg34*) - Unknown - pathogenic (recessive) g.216595579G>A - 1:216595579G>A ENST00000307340.3:c.100C>T (Arg34Ter) - USH2A_000165 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G007743 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+?/. - c.100C>T r.(?) p.(Arg34*) - Paternal (inferred) - likely pathogenic g.216595579G>A g.216422237G>A - - USH2A_000165 - PubMed: Perez-Carro 2018 - - Germline yes - - - - DNA arraySNP blood - retinal disease RP-1525 PubMed: Perez-Carro 2018 family RP-1525 F no Spain - - - - - 1 LOVD
+?/. - c.100C>T r.(?) p.(Arg34*) - Unknown - likely pathogenic g.216595579G>A g.216422237G>A c.926C>T p.(Pro309Leu), c.100C>T p.(Arg34*) - USH2A_000165 - PubMed: Hagag 2020 - - Germline/De novo (untested) ? - - - - DNA ? - - retinal disease Subject 021 PubMed: Hagag 2020 - ? - - - - - - - 1 LOVD
+/. - c.100C>T r.(?) p.(Arg34Ter) - Unknown ACMG pathogenic g.216595579G>A - - - USH2A_000165 - PubMed: Mansard et al, 2021 - rs772808534 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - M - - - - - - - 1 Anne-Françoise Roux
+/. - c.100C>T r.(?) p.(Arg34*) - Unknown - pathogenic g.216595579G>A g.216422237G>A USH2A c.100C>T, p.Arg34Ter - USH2A_000165 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G007743 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.100C>T r.(?) p.(Arg34*) - Parent #1 - likely pathogenic g.216595579G>A g.216422237G>A USH2A c.100C>T - USH2A_000165 protein variant annotation not written; heterozygous PubMed: Toms 2020 - - Unknown ? - - - - ? ? - retrospective cohort retinal disease 11 PubMed: Toms 2020 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. 1 c.100C>T r.(?) p.(Arg34*) - Paternal (confirmed) - pathogenic g.216595579G>A g.216422237G>A USH2A c.100C>T, p.(Arg34Ter) - USH2A_000165 - PubMed: Panagiotou 2020 - - Germline yes - - - - DNA SEQ-NG saliva whole exome sequencing USH II:1 PubMed: Panagiotou 2020 - F - China - - - - right eye: 23-gauge three-port pars plana vitrectomy, internal limiting membrane peeling assisted by membrane dual blue and tamponade with 16% hexafluoroethane (C2F6) gas; posterior subcapsular cataract: surgery with phacoemulsification; intraocular lens 1 LOVD
+/. 2 c.100C>T r.(?) p.(Arg34*) - Parent #1 ACMG pathogenic g.216595579G>A g.216422237G>A USH2A c.C100T, p.R34* - USH2A_000165 - PubMed: Zhu 2021 - - Germline yes - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease USHsrf66 PubMed: Zhu 2021 family 214, patient USHsrf66 F - China - - - - - 1 LOVD
+/. 2 c.100C>T r.(?) p.(Arg34*) - Parent #2 ACMG pathogenic g.216595579G>A g.216422237G>A USH2A c.100C>T, p.R34* - USH2A_000165 - PubMed: Zhu 2021 - - Germline yes - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease USHsrf59 PubMed: Zhu 2021 family 214, patient USHsrf59 F - China - - - - - 1 LOVD
+/. 2 c.100C>T r.(?) p.(Arg34*) - Parent #1 - pathogenic g.216595579G>A - c.100C>T - USH2A_000165 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. - c.100C>T r.(?) p.(Arg34Ter) - Unknown ACMG pathogenic g.216595579G>A g.216422237G>A - - USH2A_000165 ACMG GN005 criteria: PVS1_VS PM2_P PM3_S PubMed: Bonnet, C. et al., 2016; PubMed: Le Quesne Stabej, P. et al., 2012; PubMed: Perez-Carro, R. et al., 2018; PubMed: Jiang, L. et al., 2015; PubMed: Mansard, L. et al., 2021; PubMed: Panagiotou, E. S. et al., 2020 - rs772808534 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.100C>T r.(?) p.(Arg34Ter) - Unknown ACMG pathogenic (recessive) g.216595579G>A g.216422237G>A - - USH2A_000165 ACMG PM2, PVS1, PP5, PS4 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? SRP-1201 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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