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.

32 entries on 1 page. Showing entries 1 - 32.
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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     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.14803C>T r.(?) p.(Arg4935Ter) - Unknown - pathogenic g.215814065G>A g.215640723G>A - - USH2A_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 68 c.14803C>T r.(?) p.(Arg4935*) Fibronectin type-III 35 (4928-5014) Parent #2 - pathogenic g.215814065G>A g.215640723G>A - - USH2A_000011 Heterozygous PubMed: Ebermann 2009 - - Germline - - - - - DNA SEQ - - USH2 - PubMed: Ebermann 2009 Proband - - Canada - - - - - 1 Anne-Françoise Roux
+/+ 68 c.14803C>T r.(?) p.(Arg4935*) Fibronectin type-III 35 (4928-5014) Parent #2 - pathogenic g.215814065G>A g.215640723G>A - - USH2A_000011 Heterozygous PubMed: Baux 2007 - - Germline - - - - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - France - - - - - 1 Anne-Françoise Roux
+/+ 68 c.14803C>T r.(?) p.(Arg4935*) Fibronectin type-III 35 (4928-5014) Parent #2 - pathogenic g.215814065G>A g.215640723G>A - - USH2A_000011 Heterozygous PubMed: Baux 2007 - - Germline - - - - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
+/+ 68 c.14803C>T r.(?) p.(Arg4935*) Fibronectin type-III 35 (4928-5014) Parent #2 - pathogenic g.215814065G>A g.215640723G>A - - USH2A_000011 Heterozygous PubMed: Rivolta 2000 - - Germline - - - - - DNA SEQ - - USH2 - PubMed: Rivolta 2000 Proband - Genotype deduced from Sandberg et al., 2008 - - United States - - - - - 1 Anne-Françoise Roux
+/+ 68 c.14803C>T r.(?) p.(Arg4935*) Fibronectin type-III 35 (4928-5014) Parent #2 - pathogenic g.215814065G>A g.215640723G>A - - USH2A_000011 Heterozygous PubMed: Le Guédard-Méreuze 2010 - - Germline - - - - - DNA minigene, SEQ - - USH2 - PubMed: Le Guédard-Méreuze 2010 Proband F - France - - - - - 1 Anne-Françoise Roux
+/+ 68 c.14803C>T r.(?) p.(Arg4935*) Fibronectin type-III 35 (4928-5014) Paternal (inferred) - pathogenic g.215814065G>A g.215640723G>A - - USH2A_000011 Homozygous PubMed: Baux 2014 - - Germline - - - - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
+/+ 68 c.14803C>T r.(?) p.(Arg4935*) Fibronectin type-III 35 (4928-5014) Maternal (inferred) - pathogenic g.215814065G>A g.215640723G>A - - USH2A_000011 Homozygous PubMed: Baux 2014 - - Germline - - - - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
+/+ 68 c.14803C>T r.(?) p.(Arg4935*) Fibronectin type-III 35 (4928-5014) Unknown - pathogenic g.215814065G>A g.215640723G>A - - USH2A_000011 Heterozygous PubMed: McGee 2010 - - Germline - - - - - DNA SEQ - - USH2 - PubMed: McGee 2010 No genotype in the publication - - United States - - - - - 2 Anne-Françoise Roux
+/+ 68 c.14803C>T r.(?) p.(Arg4935*) Fibronectin type-III 35 (4928-5014) Unknown - pathogenic g.215814065G>A g.215640723G>A - - USH2A_000011 Heterozygous PubMed: McGee 2010 - - Germline - - - - - DNA SEQ - - RPar - PubMed: McGee 2010 No genotype in the publication - - United States - - - - - 1 Anne-Françoise Roux
+/+ 68 c.14803C>T r.(?) p.(Arg4935*) Fibronectin type-III 35 (4928-5014) Unknown - pathogenic g.215814065G>A g.215640723G>A - - USH2A_000011 Heterozygous PubMed: Besnard, Garcia-Garcia 2014 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Besnard, Garcia-Garcia 2014 Proband - - Spain - - - - - 1 Anne-Françoise Roux
+/+ 68 c.14803C>T r.(?) p.(Arg4935*) Fibronectin type-III 35 (4928-5014) Parent #1 - pathogenic g.215814065G>A g.215640723G>A - - USH2A_000011 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband M - Germany - - - - - 1 Crystel Bonnet
+/+ 68 c.14803C>T r.(?) p.(Arg4935*) Fibronectin type-III 35 (4928-5014) Parent #2 - pathogenic g.215814065G>A g.215640723G>A - - USH2A_000011 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - France - - - - - 1 Crystel Bonnet
+/+ 68 c.14803C>T r.(?) p.(Arg4935*) Fibronectin type-III 35 (4928-5014) Parent #1 - pathogenic g.215814065G>A g.215640723G>A - - USH2A_000011 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - France - - - - - 1 Crystel Bonnet
+/+ 68 c.14803C>T r.(?) p.(Arg4935*) Fibronectin type-III 35 (4928-5014) Parent #1 - pathogenic g.215814065G>A g.215640723G>A - - USH2A_000011 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband M - France - - - - - 1 Crystel Bonnet
+?/. - c.14803C>T r.(?) p.(Arg4935*) - Parent #2 - likely pathogenic (recessive) g.215814065G>A g.215640723G>A - - USH2A_000011 - PubMed: Eandi 2017 - - Germline - - - - - DNA SEQ-NG - 11-gene panel retinal disease Fam12PatTO15 PubMed: Eandi 2017 - F - Italy - - - - - 1 LOVD
+/. - c.14803C>T r.(?) p.(Arg4935Ter) - Parent #1 - pathogenic g.215814065G>A g.215640723G>A - - USH2A_000011 - PubMed: Khan 2017 - - Germline - - - - - DNA SEQ-NG - 105-gene panel retinal disease 27978 PubMed: Khan 2017 see paper - - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.14803C>T r.(?) p.(Arg4935*) - Unknown - likely pathogenic g.215814065G>A g.215640723G>A USH2A;NM_206933.2;c.[1859G>T];[14803C>T];p.[(Cys620Phe)];[(Arg4935*)] - USH2A_000011 compound heterozygous PubMed: Jiman 2020 - - Unknown ? - - - - DNA SEQ-NG-I - 176 genes panel retinal disease 13 PubMed: Jiman 2020 - M - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. - c.14803C>T r.(?) p.(Arg4935*) - Unknown - pathogenic g.215814065G>A g.215640723G>A USH2A c.14803C>T, p.Arg4935Ter - USH2A_000011 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI667_001344 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+/. - c.14803C>T r.(?) p.(Arg4935Ter) - Both (homozygous) ACMG pathogenic g.215814065G>A - - - USH2A_000011 - PubMed: Mansard et al, 2021 - rs146733615 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+/. - c.14803C>T r.(?) p.(Arg4935Ter) - Paternal (confirmed) ACMG pathogenic g.215814065G>A - - - USH2A_000011 - PubMed: Mansard et al, 2021 - rs146733615 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - M - - - - - - - 1 Anne-Françoise Roux
+/. - c.14803C>T r.(?) p.(Arg4935Ter) - Unknown ACMG pathogenic g.215814065G>A - - - USH2A_000011 - PubMed: Mansard et al, 2021 - rs146733615 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+/. - c.14803C>T r.(?) p.(Arg4935Ter) - Maternal (confirmed) ACMG pathogenic g.215814065G>A - - - USH2A_000011 - PubMed: Mansard et al, 2021 - rs146733615 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+/. - c.14803C>T r.(?) p.(Arg4935Ter) - Maternal (confirmed) ACMG pathogenic g.215814065G>A - - - USH2A_000011 - PubMed: Mansard et al, 2021 - rs146733615 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+/. - c.14803C>T r.(?) p.(Arg4935Ter) - Unknown ACMG pathogenic g.215814065G>A - - - USH2A_000011 - PubMed: Mansard et al, 2021 - rs146733615 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+/. - c.14803C>T r.(?) p.(Arg4935Ter) - Maternal (confirmed) ACMG pathogenic g.215814065G>A - - - USH2A_000011 - PubMed: Mansard et al, 2021 - rs146733615 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+/. - c.14803C>T r.(?) p.(Arg4935Ter) - Maternal (confirmed) ACMG pathogenic g.215814065G>A - - - USH2A_000011 - PubMed: Mansard et al, 2021 - rs146733615 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - M - - - - - - - 1 Anne-Françoise Roux
+?/. - c.14803C>T r.(?) p.(Arg4935*) - Parent #1 - likely pathogenic g.215814065G>A g.215640723G>A USH2A, variant 1: c.9424G>T/p.G3142*, variant 2: c.14803C>T/p.R4935* - USH2A_000011 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET7 targeted sequencing panel - see paper retinal disease 540 PubMed: Weisschuh 2020 Filing key number: 189, Usher syndrome type 2, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+/. 68 c.14803C>T r.(?) p.(Arg4935*) - Parent #2 - pathogenic g.215814065G>A - c.14803C>T - USH2A_000011 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. 68 c.14803C>T r.(?) p.(Arg4935*) - Parent #2 - pathogenic g.215814065G>A - c.14803C>T - USH2A_000011 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. 68 c.14803C>T r.(14803c>u) p.(Arg4935Ter) - Parent #1 ACMG pathogenic g.215814065G>A g.215640723G>A - - USH2A_000011 - PubMed: Reurink 2023, Journal: Reurink 2023 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease arRP26 PubMed: Reurink 2023, Journal: Reurink 2023 - - - - - - - - - 1 Janine Reurink
+/. - c.14803C>T r.(?) p.(Arg4935Ter) - Unknown ACMG pathogenic g.215814065G>A g.215640723G>A - - USH2A_000011 ACMG GN005 criteria: PVS1_VS PM2_P PM3_VS PubMed: Bonnet, C. et al., 2016; PubMed: Garcia Bohorquez, B. et al., 2021; PubMed: Wafa, T. T. et al., 2021; PubMed: Mansard, L. et al., 2021; PubMed: Hu, J. et al., 2020; PubMed: Eandi, C. M. et al., 2017 - rs146733615 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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