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.

16 entries on 1 page. Showing entries 1 - 16.
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Effect     

Exon     

AscendingDNA change (cDNA)     

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-/- 52 c.10233A>C r.(?) p.(Glu3411Asp) Fibronectin type-III 19 (3404-3494) Unknown - benign g.215960166T>G g.215786824T>G - - USH2A_000369 Heterozygous PubMed: Aller 2006, USMA missense analysis, missense variant in MSV3d - - Germline - - +DraIII - - DNA SEQ - - USH2 - PubMed: Aller 2006 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 52 c.10233A>C r.(?) p.(Glu3411Asp) Fibronectin type-III 19 (3404-3494) Unknown - benign g.215960166T>G g.215786824T>G - - USH2A_000369 Heterozygous PubMed: Aller 2006, USMA missense analysis, missense variant in MSV3d - - Germline - - +DraIII - - DNA SEQ - - USH2 - PubMed: Aller 2006 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 52 c.10233A>C r.(?) p.(Glu3411Asp) Fibronectin type-III 19 (3404-3494) Unknown - benign g.215960166T>G g.215786824T>G - - USH2A_000369 Heterozygous PubMed: Najera 2002, USMA missense analysis, missense variant in MSV3d - - Germline - - +DraIII - - DNA SEQ - - USH2 - PubMed: Najera 2002 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 52 c.10233A>C r.(?) p.(Glu3411Asp) Fibronectin type-III 19 (3404-3494) Unknown - benign g.215960166T>G g.215786824T>G - - USH2A_000369 Heterozygous PubMed: Aller 2004, USMA missense analysis, missense variant in MSV3d - - Germline - - +DraIII - - DNA SEQ - - RPar - PubMed: Aller 2004 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 52 c.10233A>C r.(?) p.(Glu3411Asp) Fibronectin type-III 19 (3404-3494) Unknown - benign g.215960166T>G g.215786824T>G - - USH2A_000369 Heterozygous PubMed: Najera 2002, USMA missense analysis, missense variant in MSV3d - - Germline - - +DraIII - - DNA SEQ - - USH2 - PubMed: Najera 2002 Proband - - Spain - - - - - 1 Jose Maria Millan
-/- 52 c.10233A>C r.(?) p.(Glu3411Asp) Fibronectin type-III 19 (3404-3494) Unknown - benign g.215960166T>G g.215786824T>G - - USH2A_000369 Heterozygous PubMed: Najera 2002, USMA missense analysis, missense variant in MSV3d - - Germline - - +DraIII - - DNA SEQ - - USH2 - PubMed: Najera 2002 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 52 c.10233A>C r.(?) p.(Glu3411Asp) Fibronectin type-III 19 (3404-3494) Unknown - benign g.215960166T>G g.215786824T>G - - USH2A_000369 Heterozygous PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - - Germline - - +DraIII - - DNA SEQ - - USH2 - PubMed: Jaijo 2010 Proband - - Spain - - - - - 1 Jose Maria Millan
-/- 52 c.10233A>C r.(?) p.(Glu3411Asp) Fibronectin type-III 19 (3404-3494) Paternal (inferred) - benign g.215960166T>G g.215786824T>G - - USH2A_000369 Homozygous PubMed: Najera 2002, USMA missense analysis, missense variant in MSV3d - - Germline - - +DraIII - - DNA SEQ - - USH2 - PubMed: Najera 2002 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 52 c.10233A>C r.(?) p.(Glu3411Asp) Fibronectin type-III 19 (3404-3494) Maternal (inferred) - benign g.215960166T>G g.215786824T>G - - USH2A_000369 Homozygous PubMed: Najera 2002, USMA missense analysis, missense variant in MSV3d - - Germline - - +DraIII - - DNA SEQ - - USH2 - PubMed: Najera 2002 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 52 c.10233A>C r.(?) p.(Glu3411Asp) Fibronectin type-III 19 (3404-3494) Paternal (inferred) - benign g.215960166T>G g.215786824T>G - - USH2A_000369 Homozygous PubMed: Najera 2002, USMA missense analysis, missense variant in MSV3d - - Germline - - +DraIII - - DNA SEQ - - USH2 - PubMed: Najera 2002 Proband - - Spain - - - - - 1 Jose Maria Millan
-/- 52 c.10233A>C r.(?) p.(Glu3411Asp) Fibronectin type-III 19 (3404-3494) Maternal (inferred) - benign g.215960166T>G g.215786824T>G - - USH2A_000369 Homozygous PubMed: Najera 2002, USMA missense analysis, missense variant in MSV3d - - Germline - - +DraIII - - DNA SEQ - - USH2 - PubMed: Najera 2002 Proband - - Spain - - - - - 1 Jose Maria Millan
-/- 52 c.10233A>C r.(?) p.(Glu3411Asp) Fibronectin type-III 19 (3404-3494) Unknown - benign g.215960166T>G g.215786824T>G - - USH2A_000369 Heterozygous PubMed: Najera 2002, USMA missense analysis, missense variant in MSV3d - - Germline - - +DraIII - - DNA SEQ - - USH2 - PubMed: Najera 2002 Proband - - Spain - - - - - 1 Jose Maria Millan
-/- 52 c.10233A>C r.(?) p.(Glu3411Asp) Fibronectin type-III 19 (3404-3494) Unknown - benign g.215960166T>G g.215786824T>G - - USH2A_000369 Heterozygous PubMed: Najera 2002, USMA missense analysis, missense variant in MSV3d - - Germline - - +DraIII - - DNA SEQ - - USH2 - PubMed: Najera 2002 Proband - - Spain - - - - - 1 Jose Maria Millan
-/- 52 c.10233A>C r.(?) p.(Glu3411Asp) Fibronectin type-III 19 (3404-3494) Paternal (inferred) - benign g.215960166T>G g.215786824T>G - - USH2A_000369 Homozygous PubMed: Najera 2002, USMA missense analysis, missense variant in MSV3d - - Germline - - +DraIII - - DNA SEQ - - USH2 - PubMed: Najera 2002 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 52 c.10233A>C r.(?) p.(Glu3411Asp) Fibronectin type-III 19 (3404-3494) Maternal (inferred) - benign g.215960166T>G g.215786824T>G - - USH2A_000369 Homozygous PubMed: Najera 2002, USMA missense analysis, missense variant in MSV3d - - Germline - - +DraIII - - DNA SEQ - - USH2 - PubMed: Najera 2002 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 52 c.10233A>C r.(?) p.(Glu3411Asp) Fibronectin type-III 19 (3404-3494) Unknown - benign g.215960166T>G g.215786824T>G - - USH2A_000369 Heterozygous PubMed: Najera 2002, USMA missense analysis, missense variant in MSV3d - - Germline - - +DraIII - - DNA minigene, SEQ - - USH2 - PubMed: Najera 2002 Proband F - Spain - - - - - 1 Jose Maria Millan
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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