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.

19 entries on 1 page. Showing entries 1 - 19.
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Effect     

Exon     

AscendingDNA change (cDNA)     

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+?/? 27 c.5329C>T r.(?) p.(Arg1777Trp) Laminin G-like 2 (1714-1891) Paternal (inferred) ACMG VUS g.216251674G>A g.216078332G>A - - USH2A_000297 Heterozygous; UV3 PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - - Germline - 0/878 controls -MspI;-HpaII;-BsaWI; - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+?/? 27 c.5329C>T r.(?) p.(Arg1777Trp) Laminin G-like 2 (1714-1891) Parent #2 ACMG VUS g.216251674G>A g.216078332G>A - - USH2A_000297 Heterozygous Liquori et al., accepted, USMA missense analysis, missense variant in MSV3d - - Germline - - -MspI;-HpaII;-BsaWI; - - DNA minigene, SEQ, SEQ-NG-S - - USH2 - Liquori accepted Proband M - France - - - - - 1 Anne-Françoise Roux
+?/? 27 c.5329C>T r.(?) p.(Arg1777Trp) Laminin G-like 2 (1714-1891) Parent #1 ACMG VUS g.216251674G>A g.216078332G>A - - USH2A_000297 Heterozygous; Probable pathogenic PubMed: Nakanishi 2011, USMA missense analysis, missense variant in MSV3d - - Germline - 0/270 controls -MspI;-HpaII;-BsaWI; - - DNA SEQ - - USH2 - PubMed: Nakanishi 2011 Proband F - Japan - - - - - 1 Anne-Françoise Roux
+?/? 27 c.5329C>T r.(?) p.(Arg1777Trp) Laminin G-like 2 (1714-1891) Unknown ACMG VUS g.216251674G>A g.216078332G>A - - USH2A_000297 Heterozygous; Probable pathogenic PubMed: Nakanishi 2011, USMA missense analysis, missense variant in MSV3d - - Germline - 0/270 controls -MspI;-HpaII;-BsaWI; - - DNA SEQ - - USH2 - PubMed: Nakanishi 2011 Proband F - Japan - - - - - 1 Anne-Françoise Roux
+?/? 27 c.5329C>T r.(?) p.(Arg1777Trp) Laminin G-like 2 (1714-1891) Paternal (confirmed) ACMG VUS g.216251674G>A g.216078332G>A - - USH2A_000297 Heterozygous; mutation PubMed: Qu 2014, USMA missense analysis, missense variant in MSV3d - - Germline - - -MspI;-HpaII;-BsaWI; - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Qu 2014 Proband M - China - - - - - 1 Anne-Françoise Roux
+?/? 27 c.5329C>T r.(?) p.(Arg1777Trp) Laminin G-like 2 (1714-1891) Paternal (confirmed) ACMG VUS g.216251674G>A g.216078332G>A - - USH2A_000297 Heterozygous; mutation PubMed: Qu 2014, USMA missense analysis, missense variant in MSV3d - - Germline - - -MspI;-HpaII;-BsaWI; - - DNA SEQ - - USH2 - PubMed: Qu 2014 Relative F - China - - - - - 1 Anne-Françoise Roux
+?/? 27 c.5329C>T r.(?) p.(Arg1777Trp) Laminin G-like 2 (1714-1891) Parent #2 ACMG VUS g.216251674G>A g.216078332G>A - - USH2A_000297 Heterozygous PubMed: Bonnet 2016, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband M - Italy - - - - - 1 Crystel Bonnet
+/. 27 c.5329C>T r.(?) p.(Arg1777Trp) - Unknown ACMG pathogenic g.216251674G>A g.216078332G>A NM_206933.2:c.5329C>T, NP_996816.2:p.(Arg1777Trp), NC_000001.10:g.216251674G>A - USH2A_000297 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - panel of 441 hereditary eye disease genes including 291 genes related to IRD retinal disease 2016111406 PubMed: Wang 2018 - M ? China Han Chinese - - - - 1 LOVD
?/. - c.5329C>T r.(?) p.(Arg1777Trp) - Unknown - VUS g.216251674G>A - - - USH2A_000297 - - - rs770329105 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.5329C>T r.(?) p.(Arg1777Trp) - Unknown ACMG likely pathogenic g.216251674G>A g.216078332G>A USH2A:NM_206933 c.C5329T, p.R1777W - USH2A_000297 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
?/. - c.5329C>T r.(?) p.(Arg1777Trp) - Both (homozygous) ACMG VUS g.216251674G>A - - - USH2A_000297 - PubMed: Mansard et al, 2021 - rs770329105 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - M - - - - - - - 1 Anne-Françoise Roux
+?/. 27 c.5329C>T r.(?) p.(Arg1777Trp) - Unknown - likely pathogenic (recessive) g.216251674G>A - c.5329C>T - USH2A_000297 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. - c.5329C>T r.(?) p.(Arg1777Trp) - Unknown ACMG likely pathogenic g.216251674G>A g.216078332G>A USH2A c.4384del(;)5329C>T, V2: c.5329C>T, (p.Arg1777Trp) - USH2A_000297 alleles in cis or trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F219 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+/. 27 c.5329C>T r.(?) p.(Arg1777Trp) - Parent #2 ACMG pathogenic g.216251674G>A g.216078332G>A USH2A c.5329C>T, p.Arg1777Trp - USH2A_000297 heterozygous PubMed: Meng 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood hereditary eye disease enrichment panel (HEDEP) - 441 genes covering 14 Usher genes USH 31 PubMed: Meng 2020 - M - China - - - - - 1 LOVD
+/. - c.5329C>T r.(?) p.(Arg1777Trp) - Parent #2 - pathogenic g.216251674G>A g.216078332G>A USH2A c.5329C>T, p.Arg1777Trp - USH2A_000297 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing retinal disease DP18086534 PubMed: Gao 2021 - F - China - - - - - 1 LOVD
+/. 27 c.5329C>T r.(?) p.(Arg1777Trp) - Parent #2 ACMG pathogenic g.216251674G>A g.216078332G>A USH2A c.5329C>T, p.R1777W - USH2A_000297 - PubMed: Zhu 2021 - - Germline yes - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease 18967896 PubMed: Zhu 2021 family 223, patient 18967896 M - China - - - - - 1 LOVD
+/. 27 c.5329C>T r.(?) p.(Arg1777Trp) - Parent #2 ACMG pathogenic g.216251674G>A g.216078332G>A USH2A c.5329C>T, p.R1777W - USH2A_000297 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF1317 PubMed: Zhu 2021 family 84, patient SRF1317 M - China - - - - - 1 LOVD
+?/. - c.5329C>T r.(?) p.(Arg1777Trp) - Unknown - likely pathogenic g.216251674G>A g.216078332G>A USH2A c.4384del(;)5329C>T; p.(Arg1777Trp) - USH2A_000297 heterozygous PubMed: Chen 2021 - - Germline/De novo (untested) ? Taiwan Biobank: 0.00033; GnomAD_exome_East: 0; GnomAD_All: 0.00000399 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F219 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
?/. - c.5329C>T r.(?) p.(Arg1777Trp) - Unknown ACMG VUS g.216251674G>A g.216078332G>A - - USH2A_000297 ACMG GN005 criteria: PM2_P PM3_S PubMed: Gao, F. J. et al., 2021; PubMed: Meng, X. et al., 2021; PubMed: Bonnet, C. et al., 2016; PubMed: Le Quesne Stabej, P. et al., 2012; PubMed: Mansard, L. et al., 2021; PubMed: Sloan-Heggen, C. M. et al., 2016 - rs770329105 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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