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.

33 entries on 1 page. Showing entries 1 - 33.
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     
+/+ 13 c.2610C>A r.(?) p.(Cys870*) Laminin EGF-like 7 (847-899) Paternal (inferred) - pathogenic g.216420126G>T g.216246784G>T - - USH2A_000594 Homozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - - Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 13 c.2610C>A r.(?) p.(Cys870*) Laminin EGF-like 7 (847-899) Maternal (inferred) - pathogenic g.216420126G>T g.216246784G>T - - USH2A_000594 Homozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - - Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 13 c.2610C>A r.(?) p.(Cys870*) Laminin EGF-like 7 (847-899) Unknown - pathogenic g.216420126G>T g.216246784G>T - - USH2A_000594 Heterozygous; mutation PubMed: Krawitz 2014 - - Germline - - -HpyCH4V - - DNA SEQ-NG-S - - USH2 - PubMed: Krawitz 2014 Proband M - Germany - - - - - 1 Peter Krawitz
+/+ 13 c.2610C>A r.(?) p.(Cys870*) Laminin EGF-like 7 (847-899) Unknown - pathogenic g.216420126G>T g.216246784G>T - - USH2A_000594 Heterozygous; mutation PubMed: Krawitz 2014 - - Germline - - -HpyCH4V - - DNA SEQ-NG-S - - USH2 - PubMed: Krawitz 2014 Proband F - Germany - - - - - 1 Peter Krawitz
+/+ 13 c.2610C>A r.(?) p.(Cys870*) Laminin EGF-like 7 (847-899) Parent #1 - pathogenic g.216420126G>T g.216246784G>T - - USH2A_000594 Heterozygous PubMed: Sodi 2014 - - Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Sodi 2014 Proband - - Italy - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2610C>A r.(?) p.(Cys870*) Laminin EGF-like 7 (847-899) Parent #1 - pathogenic g.216420126G>T g.216246784G>T - - USH2A_000594 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S, PCRq - - USH2 - PubMed: Bonnet 2016 Proband F - Germany - - - - - 1 Crystel Bonnet
+/+ 13 c.2610C>A r.(?) p.(Cys870*) Laminin EGF-like 7 (847-899) Parent #1 - pathogenic g.216420126G>T g.216246784G>T - - USH2A_000594 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband M - Germany - - - - - 1 Crystel Bonnet
+/+ 13 c.2610C>A r.(?) p.(Cys870*) Laminin EGF-like 7 (847-899) Parent #1 - pathogenic g.216420126G>T g.216246784G>T - - USH2A_000594 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband M - Germany - - - - - 1 Crystel Bonnet
+/+ 13 c.2610C>A r.(?) p.(Cys870*) Laminin EGF-like 7 (847-899) Parent #2 - pathogenic g.216420126G>T g.216246784G>T - - USH2A_000594 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - France - - - - - 1 Crystel Bonnet
+/+ 13 c.2610C>A r.(?) p.(Cys870*) Laminin EGF-like 7 (847-899) Parent #2 - pathogenic g.216420126G>T g.216246784G>T - - USH2A_000594 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Slovenia - - - - - 1 Crystel Bonnet
+/+ 13 c.2610C>A r.(?) p.(Cys870*) Laminin EGF-like 7 (847-899) Parent #2 - pathogenic g.216420126G>T g.216246784G>T - - USH2A_000594 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Slovenia - - - - - 1 Crystel Bonnet
+/+ 13 c.2610C>A r.(?) p.(Cys870*) Laminin EGF-like 7 (847-899) Parent #1 - pathogenic g.216420126G>T g.216246784G>T - - USH2A_000594 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Slovenia - - - - - 1 Crystel Bonnet
+/+ 13 c.2610C>A r.(?) p.(Cys870*) Laminin EGF-like 7 (847-899) Parent #1 - pathogenic g.216420126G>T g.216246784G>T - - USH2A_000594 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Slovenia - - - - - 1 Crystel Bonnet
+/+ 13 c.2610C>A r.(?) p.(Cys870*) Laminin EGF-like 7 (847-899) Paternal (inferred) - pathogenic g.216420126G>T g.216246784G>T - - USH2A_000594 Homozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Slovenia - - - - - 1 Crystel Bonnet
+/+ 13 c.2610C>A r.(?) p.(Cys870*) Laminin EGF-like 7 (847-899) Maternal (inferred) - pathogenic g.216420126G>T g.216246784G>T - - USH2A_000594 Homozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Slovenia - - - - - 1 Crystel Bonnet
+/+ 13 c.2610C>A r.(?) p.(Cys870*) Laminin EGF-like 7 (847-899) Paternal (inferred) - pathogenic g.216420126G>T g.216246784G>T - - USH2A_000594 Homozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Slovenia - - - - - 1 Crystel Bonnet
+/+ 13 c.2610C>A r.(?) p.(Cys870*) Laminin EGF-like 7 (847-899) Maternal (inferred) - pathogenic g.216420126G>T g.216246784G>T - - USH2A_000594 Homozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Slovenia - - - - - 1 Crystel Bonnet
+/+ 13 c.2610C>A r.(?) p.(Cys870*) Laminin EGF-like 7 (847-899) Parent #1 - pathogenic g.216420126G>T g.216246784G>T - - USH2A_000594 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Slovenia - - - - - 1 Crystel Bonnet
+/+ 13 c.2610C>A r.(?) p.(Cys870*) Laminin EGF-like 7 (847-899) Unknown - pathogenic g.216420126G>T g.216246784G>T - - USH2A_000594 Heterozygous PubMed: Baux, Vaché 2017 - - Germline - - -HpyCH4V - - DNA SEQ, SEQ-NG-S - - DFN S1682 PubMed: Baux 2017 Proband - Age 8 at the time of the study - possible USH2 M - France - - - - - 1 Anne-Françoise Roux
+/. - c.2610C>A r.(?) p.(Cys870*) - Parent #1 - pathogenic g.216420126G>T g.216246784G>T - - USH2A_000594 - PubMed: Comander 2017 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease Pat26 PubMed: Comander 2017 proband F - United States - - - - - 1 Johan den Dunnen
+?/. - c.2610C>A r.(?) p.(Cys870*) - Parent #2 - likely pathogenic g.216420126G>T g.216246784G>T - - USH2A_000594 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 550 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.2610C>A r.(?) p.(Cys870*) - Parent #2 - likely pathogenic g.216420126G>T g.216246784G>T - - USH2A_000594 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 564 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.2610C>A r.(?) p.(Cys870Ter) - Parent #1 - likely pathogenic (recessive) g.216420126G>T g.216246784G>T - - USH2A_000594 - PubMed: Weisschuh 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease ARRP255 PubMed: Weisschuh 2016 family - - Germany - - - - - 1 LOVD
+/. - c.2610C>A r.(?) p.(Cys870*) - Parent #2 - pathogenic g.216420126G>T g.216246784G>T - - USH2A_000594 - PubMed: Neuhaus 2017 - - Germline yes - - - - DNA SEQ - - USH Pat47 PubMed: Neuhaus 2017 - - no Germany;Bosnia and Herzegovina - - - - - 1 LOVD
+/. 13 c.2610C>A r.(?) p.(Cys870*) - Unknown ACMG pathogenic g.216420126G>T g.216246784G>T - - USH2A_000594 - Tracewska 2021, MolVis in press - - Germline - 0 (in-house database, ~5000 samples) - - - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 497 Tracewska 2021, MolVis in press proband M no Poland Slavic - - yes - 1 LOVD
+?/. - c.2610C>A r.(?) p.(Cys870*) - Parent #1 - likely pathogenic g.216420126G>T g.216246784G>T USH2A, variant 1: c.2610C>A/p.C870*, variant 2: c.2610C>A/p.C870* - USH2A_000594 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET7 targeted sequencing panel - see paper retinal disease 694 PubMed: Weisschuh 2020 Filing key number: 257, Usher syndrome type 2, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.2610C>A r.(?) p.(Cys870*) - Parent #1 - likely pathogenic g.216420126G>T g.216246784G>T USH2A, variant 1: c.653T>A/p.V218E, variant 2: c.2610C>A/p.C870* - USH2A_000594 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET6 targeted sequencing panel - see paper retinal disease 685 PubMed: Weisschuh 2020 Filing key number: 248, Usher syndrome type 2, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+/. 13 c.2610C>A r.(?) p.(Cys870*) - Unknown - pathogenic g.216420126G>T - c.2610C>A - USH2A_000594 - PubMed: Colombo-2020 - rs767078782 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - M no - - - - - - 1 LOVD
+?/. - c.2610C>A r.(?) p.(Cys870*) - Both (homozygous) - likely pathogenic g.216420126G>T g.216246784G>T USH2A c.2610C>A - USH2A_000594 protein variant annotation not written; heterozygous PubMed: Toms 2020 - - Unknown ? - - - - ? ? - retrospective cohort retinal disease 3 PubMed: Toms 2020 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. - c.2610C>A r.(?) p.(Cys870*) - Unknown - pathogenic g.216420126G>T - - - USH2A_000594 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 13 c.2610C>A r.(?) p.(Cys870*) - Both (homozygous) - pathogenic g.216420126G>T - c.2610C>A - USH2A_000594 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing retinal disease - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. 13 c.2610C>A r.(2610c>a) p.(Cys870Ter) - Parent #1 ACMG pathogenic g.216420126G>T g.216246784G>T - - USH2A_000594 - PubMed: Reurink 2023, Journal: Reurink 2023 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease USH29 PubMed: Reurink 2023, Journal: Reurink 2023 - - - - - - - - - 1 Janine Reurink
+/. - c.2610C>A r.(?) p.(Cys870Ter) - Unknown ACMG pathogenic g.216420126G>T g.216246784G>T - - USH2A_000594 ACMG GN005 criteria: PVS1_VS PM2_P PM3_VS PubMed: Fakin, A. et al., 2019; PubMed: Bonnet, C. et al., 2016; PubMed: Le Quesne Stabej, P. et al., 2012; PubMed: Weisschuh, N. et al., 2020; PubMed: Neuhaus, C. et al., 2017 - rs767078782 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.