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.

15 entries on 1 page. Showing entries 1 - 15.
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Effect     

Exon     

AscendingDNA change (cDNA)     

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-/. - c.15562A>G r.(?) p.(Ser5188Gly) - Unknown - benign g.215799170T>C g.215625828T>C USH2A(NM_206933.2):c.15562A>G (p.(Ser5188Gly)) - USH2A_000281 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 72 c.15562A>G r.(?) p.(Ser5188Gly) Cytoplasmic (5064-5202) Paternal (inferred) - benign g.215799170T>C g.215625828T>C - - USH2A_000281 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs58257972 Germline - 16/860 controls -AluI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 72 c.15562A>G r.(?) p.(Ser5188Gly) Cytoplasmic (5064-5202) Paternal (inferred) - benign g.215799170T>C g.215625828T>C - - USH2A_000281 Homozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs58257972 Germline - 16/860 controls -AluI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 72 c.15562A>G r.(?) p.(Ser5188Gly) Cytoplasmic (5064-5202) Maternal (inferred) - benign g.215799170T>C g.215625828T>C - - USH2A_000281 Homozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs58257972 Germline - 16/860 controls -AluI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 72 c.15562A>G r.(?) p.(Ser5188Gly) Cytoplasmic (5064-5202) Unknown - benign g.215799170T>C g.215625828T>C - - USH2A_000281 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs58257972 Germline - 16/860 controls -AluI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 72 c.15562A>G r.(?) p.(Ser5188Gly) Cytoplasmic (5064-5202) Paternal (confirmed) - benign g.215799170T>C g.215625828T>C - - USH2A_000281 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs58257972 Germline - - -AluI - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - Italy - - - - - 1 Anne-Françoise Roux
-/- 72 c.15562A>G r.(?) p.(Ser5188Gly) Cytoplasmic (5064-5202) Unknown - benign g.215799170T>C g.215625828T>C - - USH2A_000281 Heterozygous; benign PubMed: McGee 2010, USMA missense analysis, missense variant in MSV3d - rs58257972 Germline - - -AluI - - DNA SEQ - - RPar - PubMed: McGee 2010 Proband - No genotype in the publication - - United States - - - - - 1 Anne-Françoise Roux
?/. - c.15562A>G r.(?) p.(Ser5188Gly) - Unknown - VUS g.215799170T>C g.215625828T>C - - USH2A_000281 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs58257972 Germline - 185/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 185 Yoshito Koyanagi
?/. - c.15562A>G r.(?) p.(Ser5188Gly) - Both (homozygous) - VUS g.215799170T>C g.215625828T>C - - USH2A_000281 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs58257972 Germline - 13/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 13 Yoshito Koyanagi
-?/. - c.15562A>G r.(?) p.(Ser5188Gly) - Unknown - likely benign g.215799170T>C g.215625828T>C USH2A(NM_206933.2):c.15562A>G (p.(Ser5188Gly)) - USH2A_000281 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.15562A>G r.(?) p.(Ser5188Gly) - Parent #1 - likely pathogenic g.215799170T>C g.215625828T>C - - USH2A_000281 - PubMed: Huang 2015 - - Germline yes - - - - DNA SEQ-NG - 284 gene panel retinal disease W181-1 PubMed: Huang 2015 - F - China - - - - - 1 LOVD
+?/. - c.15562A>G r.(?) p.(Ser5188Gly) - Parent #2 - likely pathogenic g.215799170T>C g.215625828T>C - - USH2A_000281 - - - - Germline yes - - - - DNA SEQ-NG - 284 gene panel retinal disease W131-1 PubMed: Huang 2015 - F yes China - - - - - 1 LOVD
+?/. - c.15562A>G r.(?) p.(Ser5188Gly) - Parent #1 - likely pathogenic g.215799170T>C g.215625828T>C USH2A c.15562A>G, p.Ser5188Gly - USH2A_000281 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing retinal disease DTP190123 PubMed: Gao 2021 - F - China - - - - - 1 LOVD
?/. 72 c.15562A>G r.(?) p.(Ser5188Gly) - Parent #2 ACMG VUS g.215799170T>C g.215625828T>C USH2A c.15562A>G, p.S5188G - USH2A_000281 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease W131-1 PubMed: Zhu 2021 family 136, patient W131-1 F - China - - - - - 1 LOVD
-/. - c.15562A>G r.(?) p.(Ser5188Gly) - Unknown ACMG benign g.215799170T>C g.215625828T>C - - USH2A_000281 ACMG GN005 criteria: BA1 BS2_S BP4_P PubMed: Gao, F. J. et al., 2021; PubMed: Huang, X. F. et al., 2015 - rs58257972 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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