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.

16 entries on 1 page. Showing entries 1 - 16.
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     
+/+ 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; 0 - DNA SEQ - - USH-2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - 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; 0 - DNA SEQ - - USH-2 - PubMed: Dreyer 2000 Proband - - Norway - - 0 - - 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; 0 - DNA SEQ - - USH-2 - PubMed: Dreyer 2000 Proband - - Norway - - 0 - - 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; 0 - DNA SEQ - - USH-2 - PubMed: Jaijo 2010 Proband F - Spain - - 0 - - 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; 0 - DNA SEQ - - USH-2 - PubMed: Bernal 2005 Proband M - Spain - - 0 - - 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; 0 - DNA SEQ - - USH-2 - PubMed: Bernal 2005 Relative F - Spain - - 0 - - 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; 0 - DNA SEQ - - USH-2 - PubMed: Baux 2014 Proband M - France - - 0 - - 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; 0 - DNA SEQ-NG-S - - USH-2 - PubMed: Krawitz 2014 Proband M - Germany - - 0 - - 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; 0 - DNA SEQ, SEQ-NG-S - - USH-2 - PubMed: Jiang 2015 Proband M - China - - 0 - - 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; 0 - DNA SEQ, SEQ-NG-S - - USH-2 - PubMed: Jiang 2015 Proband M - China - - 0 - - 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 - - - 0 - DNA SEQ, SEQ-NG-S - - USH-2 - PubMed: Bonnet 2016 Proband - - France - - 0 - - 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 - - - 0 - DNA SEQ, SEQ-NG-S - - USH-2 - PubMed: Bonnet 2016 Proband - - France - - 0 - - 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 - 0 - DNA SEQ - - retinal disease - PubMed: Holtan 2020 1 patient with variant in heterozygous or compound heterozygous form - - Norway - - 0 - - 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 - - - 0 - DNA SEQ-NG - WGS retinal disease G007743 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - 0 - - 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 - - 0 - DNA arraySNP blood - retinal disease RP-1525 PubMed: Perez-Carro 2018 family RP-1525 F no Spain - - 0 - - 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) ? - - 0 - DNA ? - - retinal disease Subject 021 PubMed: Hagag 2020 - ? - - - - 0 - - 1 LOVD
Legend   How to query