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.

36 entries on 1 page. Showing entries 1 - 36.
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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)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

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Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

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Owner     
+?/. 13 c.2209C>T r.(?) p.(Arg737*) - Unknown - likely pathogenic g.216420527G>A g.216247185G>A - - USH2A_000136 - PubMed: de Castro-Miró 2014 - - Germline - - - - - DNA SEQ-NG-I Whole blood - retinal disease - PubMed: de Castro-Miró 2014 - F no Spain - - - - - 1 Marta de Castro-Miró
+/. 13 c.2209C>T r.(?) p.(Arg737*) - Paternal (confirmed) - pathogenic g.216420527G>A g.216247185G>A - - USH2A_000136 - Sharon, submitted - - Germline - - - - - DNA SEQ - - USH1 - Sharon, submitted - F no Israel Jewish-Oriental - - - - 3 Dror Sharon
+/. 13 c.2209C>T r.(?) p.(Arg737*) - Both (homozygous) - pathogenic g.216420527G>A g.216247185G>A - - USH2A_000136 - Sharon, submitted - - Germline - - - - - DNA SEQ - - USH1 - Sharon, submitted - F yes Israel Jewish-Oriental - - - - 2 Dror Sharon
+/. 13 c.2209C>T r.(?) p.(Arg737*) - Paternal (confirmed) - pathogenic g.216420527G>A g.216247185G>A - - USH2A_000136 - Sharon, submitted - - Germline - - - - - DNA SEQ - - retinal disease - Sharon, submitted - F no Israel Jewish-Oriental - - - - 4 Dror Sharon
+/+ 13 c.2209C>T r.(?) p.(Arg737*) Laminin EGF-like 4 (694-746) Paternal (inferred) - pathogenic g.216420527G>A g.216247185G>A - - USH2A_000136 Homozygous PubMed: Auslender 2008 - rs111033334 Germline - 0/230 controls +AcuI - - DNA SEQ - - USH2 - PubMed: Auslender 2008 Proband F - Iraq - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2209C>T r.(?) p.(Arg737*) Laminin EGF-like 4 (694-746) Maternal (inferred) - pathogenic g.216420527G>A g.216247185G>A - - USH2A_000136 Homozygous PubMed: Auslender 2008 - rs111033334 Germline - 0/230 controls +AcuI - - DNA SEQ - - USH2 - PubMed: Auslender 2008 Proband F - Iraq - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2209C>T r.(?) p.(Arg737*) Laminin EGF-like 4 (694-746) Paternal (inferred) - pathogenic g.216420527G>A g.216247185G>A - - USH2A_000136 Homozygous PubMed: Auslender 2008 - rs111033334 Germline - 0/230 controls +AcuI - - DNA SEQ - - USH2 - PubMed: Auslender 2008 Relative M - Iraq - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2209C>T r.(?) p.(Arg737*) Laminin EGF-like 4 (694-746) Maternal (inferred) - pathogenic g.216420527G>A g.216247185G>A - - USH2A_000136 Homozygous PubMed: Auslender 2008 - rs111033334 Germline - 0/230 controls +AcuI - - DNA SEQ - - USH2 - PubMed: Auslender 2008 Relative M - Iraq - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2209C>T r.(?) p.(Arg737*) Laminin EGF-like 4 (694-746) Unknown - pathogenic g.216420527G>A g.216247185G>A - - USH2A_000136 Heterozygous PubMed: Auslender 2008 - rs111033334 Germline - 0/230 controls +AcuI - - DNA SEQ - - USH2 - PubMed: Auslender 2008 Relative M - Iraq - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2209C>T r.(?) p.(Arg737*) Laminin EGF-like 4 (694-746) Parent #1 - pathogenic g.216420527G>A g.216247185G>A - - USH2A_000136 Heterozygous PubMed: Kaiserman 2007 - rs111033334 Germline - - +AcuI - - DNA SEQ - - USH2 - PubMed: Kaiserman 2007 Proband M - Iraq - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2209C>T r.(?) p.(Arg737*) Laminin EGF-like 4 (694-746) Parent #1 - pathogenic g.216420527G>A g.216247185G>A - - USH2A_000136 Heterozygous PubMed: Kaiserman 2007 - rs111033334 Germline - - +AcuI - - DNA SEQ - - USH2 - PubMed: Kaiserman 2007 Relative F - Iraq - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2209C>T r.(?) p.(Arg737*) Laminin EGF-like 4 (694-746) Parent #1 - pathogenic g.216420527G>A g.216247185G>A - - USH2A_000136 Heterozygous PubMed: Kaiserman 2007 - rs111033334 Germline - - +AcuI - - DNA SEQ - - RPar - PubMed: Kaiserman 2007 Relative F - Iraq - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2209C>T r.(?) p.(Arg737*) Laminin EGF-like 4 (694-746) Parent #1 - pathogenic g.216420527G>A g.216247185G>A - - USH2A_000136 Heterozygous PubMed: Kaiserman 2007 - rs111033334 Germline - - +AcuI - - DNA SEQ - - USH2 - PubMed: Kaiserman 2007 Relative M - Iraq - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2209C>T r.(?) p.(Arg737*) Laminin EGF-like 4 (694-746) Paternal (inferred) - pathogenic g.216420527G>A g.216247185G>A - - USH2A_000136 Homozygous PubMed: Kaiserman 2007 - rs111033334 Germline - - +AcuI - - DNA SEQ - - USH2 - PubMed: Kaiserman 2007 Proband M - Iraq - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2209C>T r.(?) p.(Arg737*) Laminin EGF-like 4 (694-746) Maternal (inferred) - pathogenic g.216420527G>A g.216247185G>A - - USH2A_000136 Homozygous PubMed: Kaiserman 2007 - rs111033334 Germline - - +AcuI - - DNA SEQ - - USH2 - PubMed: Kaiserman 2007 Proband M - Iraq - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2209C>T r.(?) p.(Arg737*) Laminin EGF-like 4 (694-746) Unknown - pathogenic g.216420527G>A g.216247185G>A - - USH2A_000136 Heterozygous; Mutation PubMed: Vozzi 2011 - rs111033334 Germline - - +AcuI - - DNA PE, SEQ - APEX USH2 - PubMed: Vozzi 2011 Proband - - Italy - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2209C>T r.(?) p.(Arg737*) Laminin EGF-like 4 (694-746) Paternal (confirmed) - pathogenic g.216420527G>A g.216247185G>A - - USH2A_000136 Heterozygous PubMed: Baux 2014 - rs111033334 Germline - - +AcuI - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2209C>T r.(?) p.(Arg737*) Laminin EGF-like 4 (694-746) Parent #1 - pathogenic g.216420527G>A g.216247185G>A - - USH2A_000136 Heterozygous; mutation PubMed: de Castro-Miro 2014 - rs111033334 Germline - - +AcuI - - DNA PE, SEQ - APEX RPar - PubMed: de Castro-Miro 2014 Proband F - Spain - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2209C>T r.(?) p.(Arg737*) Laminin EGF-like 4 (694-746) Parent #1 - pathogenic g.216420527G>A g.216247185G>A - - USH2A_000136 Heterozygous; mutation PubMed: de Castro-Miro 2014 - rs111033334 Germline - - +AcuI - - DNA PE, SEQ - APEX RPar - PubMed: de Castro-Miro 2014 Relative F - Spain - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2209C>T r.(?) p.(Arg737*) Laminin EGF-like 4 (694-746) Parent #1 - pathogenic g.216420527G>A g.216247185G>A - - USH2A_000136 Heterozygous; mutation PubMed: de Castro-Miro 2014 - rs111033334 Germline - - +AcuI - - DNA PE, SEQ - APEX RPar - PubMed: de Castro-Miro 2014 Relative F - Spain - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2209C>T r.(?) p.(Arg737*) Laminin EGF-like 4 (694-746) Unknown - pathogenic g.216420527G>A g.216247185G>A - - USH2A_000136 Heterozygous PubMed: Lenassi 2015 - rs111033334 Germline - - +AcuI - - DNA SEQ - - USH2 - PubMed: Lenassi 2015 Proband - - Canada - - - - - 1 Eva Lenassi
+/+ 13 c.2209C>T r.(?) p.(Arg737*) Laminin EGF-like 4 (694-746) Parent #1 - pathogenic g.216420527G>A g.216247185G>A - - USH2A_000136 Heterozygous; mutation PubMed: Bonnet 2016 - rs111033334 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - France - - - - - 1 Crystel Bonnet
+/+ 13 c.2209C>T r.(?) p.(Arg737*) Laminin EGF-like 4 (694-746) Parent #1 - pathogenic g.216420527G>A g.216247185G>A - - USH2A_000136 Heterozygous; mutation PubMed: Bonnet 2016 - rs111033334 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband F - Italy - - - - - 1 Crystel Bonnet
+/. - c.2209C>T r.(?) p.(Arg737*) - Unknown ACMG pathogenic g.216420527G>A - - - USH2A_000136 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+/. - c.2209C>T r.(?) p.(Arg737*) - Unknown ACMG pathogenic g.216420527G>A - - - USH2A_000136 - PubMed: Sharon 2019 - - Germline - 4/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 4 IRD families - - Israel - - - - - 4 Global Variome, with Curator vacancy
+/. - c.2209C>T r.(?) p.(Arg737*) - Parent #1 - pathogenic g.216420527G>A g.216247185G>A - - USH2A_000136 - PubMed: Neuhaus 2017 - rs111033334 Germline - - - - - DNA SEQ-NG - gene panel USH Pat100 PubMed: Neuhaus 2017 - - no Germany - - - - - 1 LOVD
+/. - c.2209C>T r.(?) p.(Arg737*) - Parent #2 - pathogenic g.216420527G>A g.216247185G>A - - USH2A_000136 - PubMed: Neuhaus 2017 - rs111033334 Germline - - - - - DNA SEQ-NG - gene panel USH Pat8 PubMed: Neuhaus 2017 - - no Germany - - - - - 1 LOVD
+?/. - c.2209C>T r.(?) p.(Arg737Ter) - Parent #1 - likely pathogenic g.216420527G>A g.216247185G>A - - USH2A_000136 - PubMed: Huang 2015 - - Germline yes - - - - DNA SEQ-NG - 284 gene panel retinal disease W56-1 PubMed: Huang 2015 - M - China - - - - - 1 LOVD
+?/. - c.2209C>T r.(?) p.(Arg737*) - Unknown - likely pathogenic g.216420527G>A g.216247185G>A USH2A;NM_206933.2;c.[12067-1G>A];[2209C>T];p.[?];[(Arg737*)] - USH2A_000136 compound heterozygous PubMed: Jiman 2020 - - Unknown ? - - - - DNA SEQ-NG-I - 176 genes panel retinal disease 16 PubMed: Jiman 2020 - F - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. 13 c.2209C>T r.(?) p.(Arg737*) - Unknown - likely pathogenic g.216420527G>A - c.2209C>T - USH2A_000136 - PubMed: de Castro-Miró-2014 - - Germline - - - - - DNA arraySNP - RD-xip retinal disease 75RE PubMed: de Castro-Miró-2014 - F - - - - - - - 3 LOVD
+/. - c.2209C>T r.(?) p.(Arg737Ter) - Unknown ACMG pathogenic g.216420527G>A g.216247185G>A USH2A:NM_206933 c.C2209T, p.R737X - USH2A_000136 heterozygous, individual solved, variant causal PubMed: Rodriguez-Munoz 2020 - - Germline yes - - - - DNA SEQ-NG-I blood - retinal disease RPN-482 PubMed: Rodriguez-Munoz 2020 family fRPN-214, proband M - Spain - - - - - 1 LOVD
?/. 13 c.2209C>T r.(?) p.(Arg737*) - Unknown - VUS g.216420527G>A - c.2209C>T - USH2A_000136 - PubMed: Khalaileh-2018 - - Unknown - - - - - DNA SEQ-NG blood WES retinal disease - PubMed: Khalaileh-2018 - - yes - Jewish-Ashkenazi/OJ - - - - 1 LOVD
+/. 13 c.2209C>T r.(?) p.(Arg737*) - Unknown - pathogenic g.216420527G>A - c.2209C>T - USH2A_000136 - PubMed: Colombo-2020 - rs111033334 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - M no - - - - - - 1 LOVD
+/. 13 c.2209C>T r.(?) p.(Arg737*) - Parent #1 ACMG pathogenic g.216420527G>A g.216247185G>A USH2A c.2209C>T, p.R737* - USH2A_000136 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease W56-1 PubMed: Zhu 2021 family 240, patient W56-1 M - China - - - - - 1 LOVD
+/. 13 c.2209C>T r.(?) p.(Arg737*) - Parent #1 - pathogenic g.216420527G>A - c.2209C>T - USH2A_000136 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. - c.2209C>T r.(?) p.(Arg737Ter) - Unknown ACMG pathogenic g.216420527G>A g.216247185G>A - - USH2A_000136 ACMG GN005 criteria: PVS1_VS PM2_P PM3_S PubMed: Lenassi, E. et al., 2015; PubMed: Bonnet, C. et al., 2016; PubMed: Colombo, L. et al., 2022; PubMed: Khalaileh, A. et al., 2018; PubMed: Rodriguez-Munoz, A. et al., 2020; PubMed: Colombo, L. et al., 2021; PubMed: Neuhaus, C. et al., 2017 - rs111033334 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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