All variants in the USH2A gene


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.

14 entries on 1 page. Showing entries 1 - 14.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

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     

Owner     
+/+ 2 c.100C>T r.(?) p.(Arg34*) - - 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 - Maria Bitner-Glindzicz
+/+ 2 c.100C>T r.(?) p.(Arg34*) - - pathogenic g.216595579G>A g.216422237G>A - - USH2A_000165 Heterozygous PubMed: Dreyer 2000 - - Germline - - +FatI;+BspHI;+NlaIII;+CviAII;-BssSI;-Tsp45I; 0 - Anne-Françoise Roux
+/+ 2 c.100C>T r.(?) p.(Arg34*) - - pathogenic g.216595579G>A g.216422237G>A - - USH2A_000165 Heterozygous PubMed: Dreyer 2000 - - Germline - - +FatI;+BspHI;+NlaIII;+CviAII;-BssSI;-Tsp45I; 0 - Anne-Françoise Roux
+/+ 2 c.100C>T r.(?) p.(Arg34*) - - pathogenic g.216595579G>A g.216422237G>A - - USH2A_000165 Heterozygous PubMed: Jaijo 2010 - - Germline - - +FatI;+BspHI;+NlaIII;+CviAII;-BssSI;-Tsp45I; 0 - Jose Maria Millan
+/+ 2 c.100C>T r.(?) p.(Arg34*) - - pathogenic g.216595579G>A g.216422237G>A - - USH2A_000165 Heterozygous PubMed: Bernal 2005 - - Germline - - +FatI;+BspHI;+NlaIII;+CviAII;-BssSI;-Tsp45I; 0 - Anne-Françoise Roux
+/+ 2 c.100C>T r.(?) p.(Arg34*) - - pathogenic g.216595579G>A g.216422237G>A - - USH2A_000165 Heterozygous PubMed: Bernal 2005 - - Germline - - +FatI;+BspHI;+NlaIII;+CviAII;-BssSI;-Tsp45I; 0 - Anne-Françoise Roux
+/+ 2 c.100C>T r.(?) p.(Arg34*) - - pathogenic g.216595579G>A g.216422237G>A - - USH2A_000165 Heterozygous PubMed: Baux 2014 - - Germline - - +FatI;+BspHI;+NlaIII;+CviAII;-BssSI;-Tsp45I; 0 - Anne-Françoise Roux
+/+ 2 c.100C>T r.(?) p.(Arg34*) - - pathogenic g.216595579G>A g.216422237G>A - - USH2A_000165 Heterozygous; mutation PubMed: Krawitz 2014 - - Germline - - +FatI;+BspHI;+NlaIII;+CviAII;-BssSI;-Tsp45I; 0 - Peter Krawitz
+/+ 2 c.100C>T r.(?) p.(Arg34*) - - pathogenic g.216595579G>A g.216422237G>A - - USH2A_000165 Heterozygous; mutation PubMed: Jiang 2015 - - Germline - - +FatI;+BspHI;+NlaIII;+CviAII;-BssSI;-Tsp45I; 0 - Anne-Françoise Roux
+/+ 2 c.100C>T r.(?) p.(Arg34*) - - pathogenic g.216595579G>A g.216422237G>A - - USH2A_000165 Heterozygous; mutation PubMed: Jiang 2015 - - Germline - - +FatI;+BspHI;+NlaIII;+CviAII;-BssSI;-Tsp45I; 0 - Anne-Françoise Roux
+/+ 2 c.100C>T r.(?) p.(Arg34*) - - pathogenic g.216595579G>A g.216422237G>A - - USH2A_000165 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - 0 - Crystel Bonnet
+/+ 2 c.100C>T r.(?) p.(Arg34*) - - pathogenic g.216595579G>A g.216422237G>A - - USH2A_000165 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - 0 - Crystel Bonnet
+?/. - c.100C>T r.(?) p.(Arg34*) - - likely pathogenic g.216595579G>A - - - USH2A_000165 - PubMed: Holtan 2020 - - Germline - 1/899 cases - 0 - Global Variome, with Curator vacancy
+/. - c.100C>T r.(?) p.(Arg34*) - - pathogenic (recessive) g.216595579G>A - 1:216595579G>A ENST00000307340.3:c.100C>T (Arg34Ter) - USH2A_000165 - PubMed: Carss 2017 - - Germline - - - 0 - -
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