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.

10 entries on 1 page. Showing entries 1 - 10.
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-/. - c.15377T>C r.(?) p.(Ile5126Thr) - Unknown - benign g.215802298A>G g.215628956A>G - - USH2A_000235 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/? 71 c.15377T>C r.(?) p.(Ile5126Thr) Cytoplasmic (5064-5202) Unknown ACMG likely benign g.215802298A>G g.215628956A>G - - USH2A_000235 Heterozygous; UV1 PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs111033266 Germline - - -BtsCI;-FokI;-SfaNI;-Hpy188III; - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/? 71 c.15377T>C r.(?) p.(Ile5126Thr) Cytoplasmic (5064-5202) Unknown ACMG likely benign g.215802298A>G g.215628956A>G - - USH2A_000235 Heterozygous PubMed: Yan 2009, USMA missense analysis, missense variant in MSV3d - rs111033266 Germline - 0/150 controls -BtsCI;-FokI;-SfaNI;-Hpy188III; - - DNA SEQ - - USH2 - PubMed: Yan 2009 Proband M - United States - - - - - 1 Anne-Françoise Roux
-/? 71 c.15377T>C r.(?) p.(Ile5126Thr) Cytoplasmic (5064-5202) Unknown ACMG likely benign g.215802298A>G g.215628956A>G - - USH2A_000235 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs111033266 Germline - - -BtsCI;-FokI;-SfaNI;-Hpy188III; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/? 71 c.15377T>C r.(?) p.(Ile5126Thr) Cytoplasmic (5064-5202) Unknown ACMG likely benign g.215802298A>G g.215628956A>G - - USH2A_000235 Heterozygous; benign PubMed: McGee 2010, USMA missense analysis, missense variant in MSV3d - rs111033266 Germline - - -BtsCI;-FokI;-SfaNI;-Hpy188III; - - DNA SEQ - - USH2 - PubMed: McGee 2010 Proband - No genotype in the publication - - United States - - - - - 3 Anne-Françoise Roux
-/? 71 c.15377T>C r.(?) p.(Ile5126Thr) Cytoplasmic (5064-5202) Unknown ACMG likely benign g.215802298A>G g.215628956A>G - - USH2A_000235 Heterozygous PubMed: McGee 2010, USMA missense analysis, missense variant in MSV3d - rs111033266 Germline - - -BtsCI;-FokI;-SfaNI;-Hpy188III; - - DNA SEQ - - RPar - PubMed: McGee 2010 Proband - No genotype in the publication - - United States - - - - - 1 Anne-Françoise Roux
?/. - c.15377T>C r.(?) p.(Ile5126Thr) - Parent #2 - VUS g.215802298A>G - - - USH2A_000235 - PubMed: Wang 2014 - - Germline - - - - - DNA SEQ-NG-I - - retinal disease 2 PubMed: Wang 2014 - F ? United States - - - - - 1 Stéphanie Cornelis
+?/. 71 c.15377T>C r.(?) p.(Ile5126Thr) - Unknown - likely pathogenic g.215802298A>G - c.15377T>C - USH2A_000235 - PubMed: Booij-2011 - - Germline - - - - - DNA arraySEQ Blood - retinal disease - PubMed: Booij-2011 - - - - - - - - - 1 LOVD
+?/. - c.15377T>C r.(?) p.(Ile5126Thr) - Unknown - likely pathogenic g.215802298A>G g.215628956A>G USH2A c.15377T>C, I5126T - USH2A_000235 heterozygous PubMed: Chebil 2016 - - Unknown ? - - - - DNA arraySNP, SEQ - - retinal disease Family ? PubMed: Chebil 2016 4 patients, 1 family ? - France Tunisia - - - - 1 LOVD
-/. - c.15377T>C r.(15377u>c) p.(Ile5126Thr) - Parent #1 ACMG benign g.215802298A>G g.215628956A>G - - USH2A_000235 no variant 2nd chromome PubMed: Reurink 2023, Journal: Reurink 2023 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease arRP33 PubMed: Reurink 2023, Journal: Reurink 2023 - - - - - - - - - 1 Janine Reurink
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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