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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+?/? 66 c.14426C>T r.(?) p.(Thr4809Ile) Fibronectin type-III 33 (4732-4825) Paternal (confirmed) ACMG VUS g.215822026G>A g.215648684G>A - - USH2A_000012 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - - Germline - 0/878 controls +SfaNI;-BspMI;-BsgI;-BfuAI; - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+?/? 66 c.14426C>T r.(?) p.(Thr4809Ile) Fibronectin type-III 33 (4732-4825) Parent #1 ACMG VUS g.215822026G>A g.215648684G>A - - USH2A_000012 Heterozygous PubMed: Ebermann 2009, USMA missense analysis, missense variant in MSV3d - - Germline - - +SfaNI;-BspMI;-BsgI;-BfuAI; - - DNA SEQ - - USH2 - PubMed: Ebermann 2009 Proband - - Canada - - - - - 1 Anne-Françoise Roux
+?/? 66 c.14426C>T r.(?) p.(Thr4809Ile) Fibronectin type-III 33 (4732-4825) Maternal (confirmed) ACMG VUS g.215822026G>A g.215648684G>A - - USH2A_000012 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - - Germline - - +SfaNI;-BspMI;-BsgI;-BfuAI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
+?/? 66 c.14426C>T r.(?) p.(Thr4809Ile) Fibronectin type-III 33 (4732-4825) Parent #2 ACMG VUS g.215822026G>A g.215648684G>A - - USH2A_000012 Heterozygous; Presumably pathogenic PubMed: Bonnet 2011, USMA missense analysis, missense variant in MSV3d - - Germline - 0/306 controls +SfaNI;-BspMI;-BsgI;-BfuAI; - - DNA SEQ - - USH2 - PubMed: Bonnet 2011 Proband - - - - - - - - 1 Anne-Françoise Roux
+?/? 66 c.14426C>T r.(?) p.(Thr4809Ile) Fibronectin type-III 33 (4732-4825) Unknown ACMG VUS g.215822026G>A g.215648684G>A - - USH2A_000012 Heterozygous PubMed: Lenassi 2015, USMA missense analysis, missense variant in MSV3d - - Germline - - +SfaNI;-BspMI;-BsgI;-BfuAI; - - DNA SEQ - - RPar - PubMed: Lenassi 2015 Relative - - United Kingdom (Great Britain) - - - - - 1 Eva Lenassi
+?/? 66 c.14426C>T r.(?) p.(Thr4809Ile) Fibronectin type-III 33 (4732-4825) Unknown ACMG VUS g.215822026G>A g.215648684G>A - - USH2A_000012 Heterozygous PubMed: Lenassi 2015, USMA missense analysis, missense variant in MSV3d - - Germline - - +SfaNI;-BspMI;-BsgI;-BfuAI; - - DNA SEQ - - RPar - PubMed: Lenassi 2015 Proband - - United Kingdom (Great Britain) - - - - - 1 Eva Lenassi
+?/? 66 c.14426C>T r.(?) p.(Thr4809Ile) Fibronectin type-III 33 (4732-4825) Parent #2 ACMG VUS g.215822026G>A g.215648684G>A - - USH2A_000012 Heterozygous; mutation PubMed: Bonnet 2016, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - France - - - - - 1 Crystel Bonnet
+?/? 66 c.14426C>T r.(?) p.(Thr4809Ile) Fibronectin type-III 33 (4732-4825) Parent #2 ACMG VUS g.215822026G>A g.215648684G>A - - USH2A_000012 Heterozygous; mutation PubMed: Bonnet 2016, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband M - France - - - - - 1 Crystel Bonnet
+/. - c.14426C>T r.(?) p.(Thr4809Ile) - Unknown - pathogenic (recessive) g.215822026G>A - 1:215822026G>A ENST00000307340.3:c.14426C>T (Thr4809Ile) - USH2A_000012 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G001033 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+?/. - c.14426C>T r.(?) p.(Thr4809Ile) - Unknown - likely pathogenic g.215822026G>A - - - USH2A_000012 - - - rs770553471 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 66 c.14426C>T r.(?) p.(Thr4809Ile) - Unknown ACMG likely pathogenic g.215822026G>A g.215648684G>A USH2A c.14426C>T, p.(Thr4809Ile) - USH2A_000012 heterozygous PubMed: Dan 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG blood Panel 6 containing 386 genes retinal disease 146 PubMed: Dan 2020 - F ? China - - - - - 1 LOVD
+?/. - c.14426C>T r.(?) p.(Thr4809Ile) - Maternal (confirmed) ACMG likely pathogenic g.215822026G>A - - - USH2A_000012 - PubMed: Mansard et al, 2021 - rs770553471 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - M - - - - - - - 1 Anne-Françoise Roux
+?/. - c.14426C>T r.(?) p.(Thr4809Ile) - Unknown - likely pathogenic g.215822026G>A g.215648684G>A USH2A c.14426C>T, p.Thr4809Ile - USH2A_000012 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G001033 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. 66 c.14426C>T r.(?) p.(Thr4809Ile) - Parent #1 ACMG likely pathogenic g.215822026G>A g.215648684G>A USH2A c.14426C>T, p.Thr4809Ile - USH2A_000012 heterozygous PubMed: Meng 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood hereditary eye disease enrichment panel (HEDEP) - 441 genes covering 14 Usher genes USH 24 PubMed: Meng 2020 - M - China - - - - - 1 LOVD
+?/. - c.14426C>T r.(?) p.(Thr4809Ile) - Parent #2 - likely pathogenic g.215822026G>A g.215648684G>A USH2A c.14426C>T - USH2A_000012 protein variant annotation not written; heterozygous PubMed: Toms 2020 - - Unknown ? - - - - ? ? - retrospective cohort retinal disease 34 PubMed: Toms 2020 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.14426C>T r.(?) p.(Thr4809Ile) - Parent #2 - likely pathogenic g.215822026G>A g.215648684G>A USH2A c.14426C>T - USH2A_000012 protein variant annotation not written; heterozygous PubMed: Toms 2020 - - Unknown ? - - - - ? ? - retrospective cohort retinal disease 53 PubMed: Toms 2020 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
?/. - c.14426C>T r.(?) p.(Thr4809Ile) - Unknown ACMG VUS g.215822026G>A g.215648684G>A - - USH2A_000012 ACMG GN005 criteria: PM2_P PM3_M PP1_P PubMed: Lenassi, E. et al., 2015; PubMed: Meng, X. et al., 2021; PubMed: Bonnet, C. et al., 2016; PubMed: Dan, H. et al., 2020; PubMed: Mansard, L. et al., 2021 - rs770553471 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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