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.

17 entries on 1 page. Showing entries 1 - 17.
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Effect     

Exon     

AscendingDNA change (cDNA)     

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+/. - c.5608C>T r.(?) p.(Arg1870Trp) - Unknown - pathogenic g.216246607G>A g.216073265G>A - - USH2A_001524 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs144768593 Germline - 10/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 10 Yoshito Koyanagi
+?/. - c.5608C>T r.(?) p.(Arg1870Trp) - Unknown - likely pathogenic (recessive) g.216246607G>A g.216073265G>A - - USH2A_001524 - PubMed: Xu 2014 - rs144768593 Germline - 2/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP058 PubMed: Xu 2014 - - - China - - - - - 1 LOVD
+?/. - c.5608C>T r.(?) p.(Arg1870Trp) - Unknown - likely pathogenic (recessive) g.216246607G>A g.216073265G>A - - USH2A_001524 - PubMed: Xu 2014 - rs144768593 Germline - 2/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP296 PubMed: Xu 2014 family M - China - - - - - 1 LOVD
?/. 28 c.5608C>T r.(?) p.(Arg1870Trp) - Unknown ACMG VUS g.216246607G>A g.216073265G>A c.5608C>T - USH2A_001524 single heterozygous variant in a recessive gene, probably not causative in the patient PubMed: Hosono 2018 - rs144768593 Germline no - - - - DNA SEQ, SEQ-NG blood Targeted next-generation sequencing LCA6 EYE149 PubMed: Hosono 2018, Torii 2023, submitted proband, family EYE149 M no Japan Japanese - - - - 1 Kaoruko Torii
+/. 28 c.5608C>T r.(?) p.(Arg1870Trp) - Unknown ACMG pathogenic g.216246607G>A g.216073265G>A NM_206933.2:c.5608C>T, NP_996816.2:p.(Arg1870Trp), NC_000001.10:g.216246607G>A - USH2A_001524 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - panel of 441 hereditary eye disease genes including 291 genes related to IRD retinal disease 2016082904 PubMed: Wang 2018 - F ? China Han Chinese - - - - 1 LOVD
+?/. - c.5608C>T r.(?) p.(Arg1870Trp) - Parent #1 - likely pathogenic g.216246607G>A g.216073265G>A USH2A, variant 1: c.5608C>T/p.R1870W, variant 2: c.5608C>T/p.R1870W - USH2A_001524 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET9 targeted sequencing panel - see paper retinal disease 806 PubMed: Weisschuh 2020 Filing key number: 321, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.5608C>T r.(?) p.(Arg1870Trp) - Unknown - likely pathogenic g.216246607G>A g.216073265G>A USH2A p.(Arg1870Trp) - USH2A_001524 only protein changes written in the publication; Mutalyzer Back Translator used for coding DNA variant (impossible in case of frameshift mutations); compound heterozygous PubMed: Koyanagi 2020 - - Unknown ? - - - - DNA ? - retrospective study retinal disease OPH-302 PubMed: Koyanagi 2020 - M - Japan - - - - - 1 LOVD
+?/. 28 c.5608C>T r.(?) p.(Arg1870Trp) - Unknown - likely pathogenic (recessive) g.216246607G>A - c.5608C>T - USH2A_001524 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+?/. 28 c.5608C>T r.(?) p.(Arg1870Trp) - Unknown - likely pathogenic (recessive) g.216246607G>A - c.5608C>T - USH2A_001524 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
?/. 28 c.5608C>T r.(?) p.(Arg1870Trp) - Parent #2 ACMG VUS g.216246607G>A g.216073265G>A USH2A c.5608C>T, p. Arg1870Trp - USH2A_001524 heterozygous PubMed: Meng 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood hereditary eye disease enrichment panel (HEDEP) - 441 genes covering 14 Usher genes retinal disease 41 PubMed: Meng 2020 - F - China - - - - - 1 LOVD
?/. 28 c.5608C>T r.(?) p.(Arg1870Trp) - Parent #2 ACMG VUS g.216246607G>A g.216073265G>A USH2A c.5608C>T, p.Arg1870Trp - USH2A_001524 heterozygous PubMed: Meng 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood hereditary eye disease enrichment panel (HEDEP) - 441 genes covering 14 Usher genes retinal disease 66 PubMed: Meng 2020 - M - China - - - - - 1 LOVD
+/. 28 c.5608C>T r.(?) p.(Arg1870Trp) - Parent #1 ACMG pathogenic g.216246607G>A g.216073265G>A USH2A c.5608C>T, p.R1870W - USH2A_001524 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF1199 PubMed: Zhu 2021 family 74, patient SRF1199 M - China - - - - - 1 LOVD
+/. 28 c.5608C>T r.(?) p.(Arg1870Trp) - Unknown ACMG pathogenic g.216246607G>A g.216073265G>A USH2A c.5608C>T, p.R1870W - USH2A_001524 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease 97 PubMed: Zhu 2021 family 125, patient 97 M - China - - - - - 1 LOVD
+/. 28 c.5608C>T r.(?) p.(Arg1870Trp) - Parent #2 ACMG pathogenic g.216246607G>A g.216073265G>A USH2A c.5608C>T, p.R1870W - USH2A_001524 with two variants in EYS gene PubMed: Zhu 2021 - - Germline yes - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease 44270633 PubMed: Zhu 2021 family 83, patient 44270633 M - China - - - - - 1 LOVD
+/. 28 c.5608C>T r.(?) p.(Arg1870Trp) - Parent #2 ACMG pathogenic g.216246607G>A g.216073265G>A USH2A c.5608C>T, p.R1870W - USH2A_001524 - PubMed: Zhu 2021 - - Germline yes - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease HSR301 PubMed: Zhu 2021 family 82, patient HSR301 M - China - - - - - 1 LOVD
+?/. - c.5608C>T r.(?) p.(Arg1870Trp) - Parent #2 - likely pathogenic g.216246607G>A g.216073265G>A USH2A c.5608C>T, p.(Arg1870Trp) - USH2A_001524 heterozygous PubMed: Inaba 2020 - - Unknown ? - - - - DNA SEQ-NG-I - panel of 39 (238 patients) or 50 (287 patients) genes retinal disease - PubMed: Inaba 2020 - - - Japan - - - - - 1 LOVD
?/. - c.5608C>T r.(?) p.(Arg1807Trp) - Unknown ACMG VUS g.216246607G>A g.216073265G>A - - USH2A_001524 ACMG GN005 criteria: PubMed: Meng, X. et al., 2021; PubMed: Weisschuh, N. et al., 2020; PubMed: Inaba, A. et al., 2020 - rs144768593 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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