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)     

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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Disease     

ID_report     

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Owner     
+?/? 21 c.4576G>A r.(?) p.(Gly1526Arg) Laminin G-like 1 (1517-1709) Parent #2 ACMG VUS g.216348645C>T g.216175303C>T - - USH2A_000953 Heterozygous; mutation PubMed: Zheng 2015, USMA missense analysis, missense variant in MSV3d - rs769198746 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Zheng 2015 Proband F - China - - - - - 1 Anne-Françoise Roux
+?/. - c.4576G>A r.(?) p.(Gly1526Arg) - Both (homozygous) - likely pathogenic g.216348645C>T g.216175303C>T - - USH2A_000953 - PubMed: Huang 2015 - - Germline yes - - - - DNA SEQ-NG - 284 gene panel retinal disease W133-1 PubMed: Huang 2015 - M yes China - - - - - 1 LOVD
+?/. - c.4576G>A r.(?) p.(Gly1526Arg) - Parent #2 - likely pathogenic g.216348645C>T g.216175303C>T - - USH2A_000953 - - - - Germline yes - - - - DNA SEQ-NG - 284 gene panel retinal disease W31-1 PubMed: Huang 2015 - M - China - - - - - 1 LOVD
+?/. - c.4576G>A r.(?) p.(Gly1526Arg) - Unknown ACMG likely pathogenic g.216348645C>T g.216175303C>T USH2A c.3635C>T(;)4576G>A, V1: c.4576G>A, (p.Gly1526Arg) - USH2A_000953 alleles in cis or trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F123 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+?/. - c.4576G>A r.(?) p.(Gly1526Arg) - Unknown ACMG likely pathogenic g.216348645C>T g.216175303C>T USH2A c.3665C>T(;)4576G>A, V2: c.4576G>A, (p.Gly1526Arg) - USH2A_000953 alleles in cis or trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F024 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+?/. - c.4576G>A r.(?) p.(Gly1526Arg) - Unknown ACMG likely pathogenic g.216348645C>T g.216175303C>T USH2A c.4576G>A(;)9570+1G>A, V2: c.4576G>A, (p.Gly1526Arg) - USH2A_000953 alleles in cis or trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F295 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+/. - c.4576G>A r.(?) p.(Gly1526Arg) - Parent #1 - pathogenic g.216348645C>T g.216175303C>T USH2A c.4576G>A, p.Gly1526Arg - USH2A_000953 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing retinal disease DP19052236 PubMed: Gao 2021 - M - China - - - - - 1 LOVD
+/. 21 c.4576G>A r.(?) p.(Gly1526Arg) - Parent #1 ACMG pathogenic g.216348645C>T g.216175303C>T USH2A c.4576G>A, p.G1526R - USH2A_000953 - PubMed: Zhu 2021 - - Germline yes - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease 42630776 PubMed: Zhu 2021 family 148, patient 42630776 M - China - - - - - 1 LOVD
+/. 21 c.4576G>A r.(?) p.(Gly1526Arg) - Parent #1 ACMG pathogenic g.216348645C>T g.216175303C>T USH2A c.4576G>A, p.G1526R - USH2A_000953 - PubMed: Zhu 2021 - - Germline yes - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease 42630776_1 PubMed: Zhu 2021 family 148, patient 42630776_ M - China - - - - - 1 LOVD
+/. 21 c.4576G>A r.(?) p.(Gly1526Arg) - Parent #2 ACMG pathogenic g.216348645C>T g.216175303C>T USH2A c.4576G>A, p.G1526R - USH2A_000953 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease 934 PubMed: Zhu 2021 family 234, patient 934 M - China - - - - - 1 LOVD
+/. 21 c.4576G>A r.(?) p.(Gly1526Arg) - Parent #2 ACMG pathogenic g.216348645C>T g.216175303C>T USH2A c.4576G>A, p.G1526R - USH2A_000953 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease 1249 PubMed: Zhu 2021 family 130, patient 1249 F - China - - - - - 1 LOVD
+/. 21 c.4576G>A r.(?) p.(Gly1526Arg) - Parent #2 ACMG pathogenic g.216348645C>T g.216175303C>T USH2A c.4576G>A, p.G1526R - USH2A_000953 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease W31-1 PubMed: Zhu 2021 family 238, patient W31-1 M - China - - - - - 1 LOVD
+?/. - c.4576G>A r.(?) p.(Gly1526Arg) - Unknown - likely pathogenic g.216348645C>T g.216175303C>T USH2A c.3665C>T(;)4576G>A; p.(Gly1526Arg) - USH2A_000953 heterozygous PubMed: Chen 2021 - - Germline/De novo (untested) ? Taiwan Biobank: 0; GnomAD_exome_East: 0.000219; GnomAD_All: 0.0000199 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F024 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
+?/. - c.4576G>A r.(?) p.(Gly1526Arg) - Unknown - likely pathogenic g.216348645C>T g.216175303C>T USH2A c.3635C>T(;)4576G>A; p.(Gly1526Arg) - USH2A_000953 heterozygous PubMed: Chen 2021 - - Germline/De novo (untested) ? Taiwan Biobank: 0; GnomAD_exome_East: 0.000219; GnomAD_All: 0.0000199 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F123 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
+?/. - c.4576G>A r.(?) p.(Gly1526Arg) - Unknown - likely pathogenic g.216348645C>T g.216175303C>T USH2A c.4576G>A(;)9570+1G>A; p.(Gly1526Arg) - USH2A_000953 heterozygous PubMed: Chen 2021 - - Germline/De novo (untested) ? Taiwan Biobank: 0; GnomAD_exome_East: 0.000219; GnomAD_All: 0.0000199 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F295 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
?/. - c.4576G>A r.(?) p.(Gly1526Arg) - Unknown ACMG VUS g.216348645C>T g.216175303C>T - - USH2A_000953 ACMG GN005 criteria: PM2_P PM3_M PubMed: Gao, F. J. et al., 2021; PubMed: Zheng, S. L. et al., 2015; PubMed: Huang, X. F. et al., 2015 - rs769198746 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4576G>A r,(?) p.(Gly1526Arg) - Parent #1 - pathogenic (recessive) g.216348645C>T g.216175303C>T - - USH2A_000953 combination of alleles not reported PubMed: Wu 2019 - - Germline - 1/1291 cases hearing loss - - - DNA SEQ, SEQ-NG - 213-gene panel HL - PubMed: Wu 2019 analysis 1291 cases hearing loss - - Taiwan - - - - - 1 Johan den Dunnen
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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