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.

29 entries on 1 page. Showing entries 1 - 29.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Re-site     

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Methylation     

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Disease     

ID_report     

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Owner     
+/. - c.10859T>C r.(?) p.(Ile3620Thr) - Unknown - pathogenic g.215953265A>G g.215779923A>G - - USH2A_001488 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs779716464 Germline - 4/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 3 Yoshito Koyanagi
+?/. 55 c.10859T>C r.(?) p.(Ile3620Thr) - Unknown - likely pathogenic g.215953265A>G g.215779923A>G T10859C - USH2A_001488 - PubMed: Katagiri 2014 - - Germline - - - - - DNA SEQ-NG - WES retinal disease RP#023 PubMed: Katagiri 2014 family - - Japan - - - - - 1 LOVD
+/. 55 c.10859T>C r.(?) p.(Ile3620Thr) - Unknown ACMG pathogenic g.215953265A>G g.215779923A>G NM_206933.2:c.10859T>C, NP_996816.2:p.(Ile3620Thr), NC_000001.10:g.215953265A>G - USH2A_001488 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - panel of 441 hereditary eye disease genes including 291 genes related to IRD retinal disease 2017010404 PubMed: Wang 2018 - F ? China Han Chinese - - - - 1 LOVD
?/. 55 c.10859T>C r.(?) p.(Ile3620Thr) - Both (homozygous) - VUS g.215953265A>G - c.10859T>C - USH2A_001488 - PubMed: Nishiguchi-2013 - - Germline - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Nishiguchi-2013 - F yes - Japanese - - - - 1 Julia Lopez
+?/. - c.10859T>C r.(?) p.(Ile3620Thr) - Parent #1 - likely pathogenic g.215953265A>G g.215779923A>G USH2A, variant 1: c.12067-2A>G/p.?, variant 2: c.10859T>C/p.I3620T - USH2A_001488 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET2 targeted sequencing panel - see paper retinal disease 1105 PubMed: Weisschuh 2020 Filing key number: 745, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.10859T>C r.(?) p.(Ile3620Thr) - Unknown - likely pathogenic g.215953265A>G g.215779923A>G USH2A p.(Ile3620Thr) - USH2A_001488 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-459 PubMed: Koyanagi 2020 - F - Japan - - - - - 1 LOVD
+?/. - c.10859T>C r.(?) p.(Ile3620Thr) - Unknown ACMG likely pathogenic g.215953265A>G g.215779923A>G USH2A c.5836C>T(;)10859T>C, V2: c.10859T>C, (p.Ile3620Thr) - USH2A_001488 alleles in cis or trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F297 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+?/. - c.10859T>C r.(?) p.(Ile3620Thr) - Unknown ACMG likely pathogenic g.215953265A>G g.215779923A>G USH2A c.2802T>G(;)10859T>C, V2: c.10859T>C, (p.Ile3620Thr) - USH2A_001488 alleles in cis or trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F131 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+/. 55 c.10859T>C r.(?) p.(Ile3620Thr) - Both (homozygous) - pathogenic (recessive) g.215953265A>G - c.10859T>C:p.I3620T - USH2A_001488 - PubMed: Numa-2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - retinal disease - PubMed: Numa 2020 - F - Japan Japanese - - - - 1 LOVD
+/. 55 c.10859T>C r.(?) p.(Ile3620Thr) - Both (homozygous) - pathogenic (recessive) g.215953265A>G - c.10859T>C:p.I3620T - USH2A_001488 - PubMed: Numa-2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - retinal disease - PubMed: Numa 2020 - F - Japan Japanese - - - - 1 LOVD
+/. 55 c.10859T>C r.(?) p.(Ile3620Thr) - Unknown - pathogenic (recessive) g.215953265A>G - c.10859T>C:p.I3620T - USH2A_001488 - PubMed: Numa-2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - retinal disease - PubMed: Numa 2020 - M - Japan Japanese - - - - 1 LOVD
+/. 55 c.10859T>C r.(?) p.(Ile3620Thr) - Maternal (confirmed) - pathogenic g.215953265A>G g.215779923A>G USH2A c.10859T>C, p.I3620T - USH2A_001488 heterozygous PubMed: Qu 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ blood 103 known RD genes panel retinal disease RP F6-II-3 PubMed: Qu 2020 - F - - - - - - - 1 LOVD
+?/. 55 c.10859T>C r.(?) p.(Ile3620Thr) - Parent #1 ACMG likely pathogenic g.215953265A>G g.215779923A>G USH2A c.10859T>C, p. Ile3620Thr - USH2A_001488 heterozygous PubMed: Meng 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood hereditary eye disease enrichment panel (HEDEP) - 441 genes covering 14 Usher genes retinal disease 47 PubMed: Meng 2020 - M - China - - - - - 1 LOVD
+?/. 55 c.10859T>C r.(?) p.(Ile3620Thr) - Parent #2 ACMG likely pathogenic g.215953265A>G g.215779923A>G USH2A c.10859T>C, p. Ile3620Thr - USH2A_001488 heterozygous PubMed: Meng 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood hereditary eye disease enrichment panel (HEDEP) - 441 genes covering 14 Usher genes USH 23 PubMed: Meng 2020 - M - China - - - - - 1 LOVD
+/. - c.10859T>C r.(?) p.(Ile3620Thr) - Parent #1 - pathogenic g.215953265A>G g.215779923A>G USH2A c.10859T>C, p.Ile3620Thr - USH2A_001488 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing retinal disease RD17072130 PubMed: Gao 2021 - M - China - - - - - 1 LOVD
+/. - c.10859T>C r.(?) p.(Ile3620Thr) - Parent #1 - pathogenic g.215953265A>G g.215779923A>G USH2A c.10859T>C, p.Ile3620Thr - USH2A_001488 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing retinal disease RD18040300 PubMed: Gao 2021 - M - China - - - - - 1 LOVD
+/. - c.10859T>C r.(?) p.(Ile3620Thr) - Parent #2 - pathogenic g.215953265A>G g.215779923A>G USH2A c.10859T>C, p.Ile3620Thr - USH2A_001488 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing USH DTP1901698 PubMed: Gao 2021 - M - China - - - - - 1 LOVD
+/. 55 c.10859T>C r.(?) p.(Ile3620Thr) - Parent #1 ACMG pathogenic g.215953265A>G g.215779923A>G USH2A c.10859T>C, p.I3620T - USH2A_001488 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF682 PubMed: Zhu 2021 family 52, patient SRF682 M - China - - - - - 1 LOVD
+/. 55 c.10859T>C r.(?) p.(Ile3620Thr) - Parent #1 ACMG pathogenic g.215953265A>G g.215779923A>G USH2A c.10859T>C, p.I3620T - USH2A_001488 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF-1941 PubMed: Zhu 2021 family 6, patient SRF-1941 M - China - - - - - 1 LOVD
+/. 55 c.10859T>C r.(?) p.(Ile3620Thr) - Parent #2 ACMG pathogenic g.215953265A>G g.215779923A>G USH2A c.10859T>C, p.I3620T - USH2A_001488 - PubMed: Zhu 2021 - - Germline yes - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease 42535416 PubMed: Zhu 2021 family 48, patient 42535416 M - China - - - - - 1 LOVD
+/. 55 c.10859T>C r.(?) p.(Ile3620Thr) - Parent #2 ACMG pathogenic g.215953265A>G g.215779923A>G USH2A c.10859T>C, p.I3620T - USH2A_001488 - PubMed: Zhu 2021 - - Germline yes - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease 44023242 PubMed: Zhu 2021 family 49, patient 44023242 M - China - - - - - 1 LOVD
+/. 55 c.10859T>C r.(?) p.(Ile3620Thr) - Parent #2 ACMG pathogenic g.215953265A>G g.215779923A>G USH2A c.10859T>C, p.I3620T - USH2A_001488 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease 41575593 PubMed: Zhu 2021 family 244, patient 41575593 M - China - - - - - 1 LOVD
+?/. - c.10859T>C r.(?) p.(Ile3620Thr) - Parent #1 - likely pathogenic g.215953265A>G g.215779923A>G USH2A c.10859T>C, p.(Ile3620Thr) - USH2A_001488 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.10859T>C r.(?) p.(Ile3620Thr) - Parent #1 - likely pathogenic g.215953265A>G g.215779923A>G USH2A c.10859T>C, p.(Ile3620Thr) - USH2A_001488 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.10859T>C r.(?) p.(Ile3620Thr) - Unknown - likely pathogenic g.215953265A>G g.215779923A>G USH2A c.2802T>G(;)10859T>C; p.(Ile3620Thr) - USH2A_001488 heterozygous PubMed: Chen 2021 - - Germline/De novo (untested) ? Taiwan Biobank: 0.00033; GnomAD_exome_East: 0.000109; GnomAD_All: 0.0000119 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F131 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
+?/. - c.10859T>C r.(?) p.(Ile3620Thr) - Unknown - likely pathogenic g.215953265A>G g.215779923A>G USH2A c.5836C>T(;)10859T>C; p.(Ile3620Thr) - USH2A_001488 heterozygous PubMed: Chen 2021 - - Germline/De novo (untested) ? Taiwan Biobank: 0.00033; GnomAD_exome_East: 0.000109; GnomAD_All: 0.0000119 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F297 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
+/. - c.10859T>C r.(?) p.(Ile3620Thr) - Parent #2 - pathogenic (recessive) g.215953265A>G - - - USH2A_001488 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - - - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
+?/. 55 c.10859T>C r.(?) p.(Ile3620Thr) - Both (homozygous) - likely pathogenic g.215953265A>G - c.10859T>C - USH2A_001488 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. - c.10859T>C r.(?) p.(Ile3620Thr) - Unknown ACMG pathogenic g.215953265A>G g.215779923A>G - - USH2A_001488 ACMG GN005 criteria: PM2_P PM3_VS PP3_P PubMed: Gao, F. J. et al., 2021; PubMed: Qu, L. H. et al., 2020; PubMed: Meng, X. et al., 2021; PubMed: MacGowan, T. L. et al., 2020; PubMed: Inaba, A. et al., 2020 - rs779716464 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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