Full data view for gene MYO7A


This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Information The variants shown are described using the NM_000260.3 transcript reference sequence.

83 entries on 1 page. Showing entries 1 - 83.
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-/. - c.4996A>T r.(?) p.(Ser1666Cys) - Unknown - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Paternal (inferred) - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Homozygous; non causative PubMed: Rong 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Rong 2014 Proband M - China - - - - - 1 Anne-Françoise Roux
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Maternal (inferred) - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Homozygous; non causative PubMed: Rong 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Rong 2014 Proband M - China - - - - - 1 Anne-Françoise Roux
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Paternal (inferred) - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Homozygous; non causative PubMed: Rong 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Rong 2014 Proband F - China - - - - - 1 Anne-Françoise Roux
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Maternal (inferred) - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Homozygous; non causative PubMed: Rong 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Rong 2014 Proband F - China - - - - - 1 Anne-Françoise Roux
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Unknown - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Heterozygous; non causative PubMed: Rong 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Rong 2014 Proband - variants found in samples of two affected brothers. They carry the same causative mutations in MYO7A, but other variants cannot be discriminated from the publication. M - China - - - - - 1 Anne-Françoise Roux
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Unknown - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Heterozygous PubMed: Besnard, Garcia-Garcia 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Besnard, Garcia-Garcia 2014 Proband M - - - - - - - 1 Anne-Françoise Roux
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Paternal (inferred) - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Homozygous; Neutral PubMed: Le Quesne Stabej 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Maternal (inferred) - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Homozygous; Neutral PubMed: Le Quesne Stabej 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Unknown - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Unknown - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Heterozygous PubMed: Jaijo 2007; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1 - PubMed: Aparisi 2014 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 36 c.4996A>T r.4996a>u p.Ser1666Cys SH3 (1603-1672) Paternal (inferred) - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA, RNA RT-PCR, SEQ - - USH1B ? PubMed: Roux 2011 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 36 c.4996A>T r.4996a>u p.Ser1666Cys SH3 (1603-1672) Maternal (inferred) - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA, RNA RT-PCR, SEQ - - USH1B ? PubMed: Roux 2011 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Unknown - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Heterozygous PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1B ? PubMed: Roux 2006 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Paternal (inferred) - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Homozygous PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1B ? PubMed: Roux 2006 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Maternal (inferred) - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Homozygous PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1B ? PubMed: Roux 2006 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Unknown - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Heterozygous PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1B ? PubMed: Roux 2006 Proband M - Algeria - - - - - 1 Anne-Françoise Roux
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Unknown - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Heterozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Unknown - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Heterozygous PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1B ? PubMed: Roux 2006 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Paternal (inferred) - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Homozygous PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1B ? PubMed: Roux 2006 Proband M - Turkey - - - - - 1 Anne-Françoise Roux
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Maternal (inferred) - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Homozygous PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1B ? PubMed: Roux 2006 Proband M - Turkey - - - - - 1 Anne-Françoise Roux
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Paternal (inferred) - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Homozygous PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1B ? PubMed: Roux 2006 Proband M - Senegal - - - - - 1 Anne-Françoise Roux
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Maternal (inferred) - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Homozygous PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1B ? PubMed: Roux 2006 Proband M - Senegal - - - - - 1 Anne-Françoise Roux
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Paternal (inferred) - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Homozygous USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1B ? - Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Maternal (inferred) - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Homozygous USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1B ? - Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Unknown - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Heterozygous PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA minigene, SEQ - - USH1B ? PubMed: Roux 2006 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Unknown - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Heterozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband M - - north Africa - - - - 1 Anne-Françoise Roux
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Paternal (inferred) - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Maternal (inferred) - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Paternal (inferred) - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Maternal (inferred) - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Unknown - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Heterozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Paternal (inferred) - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband M - - - - - - - 1 Anne-Françoise Roux
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Maternal (inferred) - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband M - - - - - - - 1 Anne-Françoise Roux
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Unknown - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Heterozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Parent #2 - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Heterozygous PubMed: Gerber 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1B ? PubMed: Gerber 2006 Proband - - France - - - - - 1 Anne-Françoise Roux
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Paternal (inferred) - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Homozygous PubMed: Gerber 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1B ? PubMed: Gerber 2006 Proband - - France - - - - - 1 Anne-Françoise Roux
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Maternal (inferred) - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Homozygous PubMed: Gerber 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1B ? PubMed: Gerber 2006 Proband - - France - - - - - 1 Anne-Françoise Roux
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Unknown - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Heterozygous PubMed: Luijendijk 2004; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - DFNA1 ? PubMed: Luijendijk 2004 Proband F - Netherlands - - - - - 1 Anne-Françoise Roux
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Unknown - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Heterozygous PubMed: Jaijo 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA minigene, RT-PCR, SEQ - - USH1B ? PubMed: Jaijo 2006 Proband - Minigene and Nasal cell studies in Aparisi et al., 2013 M - Spain - - - - - 1 Jose Maria Millan
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Unknown - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Heterozygous PubMed: Jaijo 2007; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1B ? PubMed: Jaijo 2007 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Unknown - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Heterozygous PubMed: Jaijo 2007; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1B ? PubMed: Jaijo 2007 Proband F - Italy - - - - - 1 Jose Maria Millan
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Unknown - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Heterozygous PubMed: Jaijo 2007; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1B ? PubMed: Jaijo 2007 Proband F - Italy - - - - - 1 Jose Maria Millan
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Paternal (inferred) - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Homozygous PubMed: Jaijo 2007; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1B ? PubMed: Jaijo 2007 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Maternal (inferred) - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Homozygous PubMed: Jaijo 2007; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1B ? PubMed: Jaijo 2007 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Paternal (inferred) - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Homozygous PubMed: Jaijo 2007; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1B ? PubMed: Jaijo 2007 Proband F - Italy - - - - - 1 Jose Maria Millan
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Maternal (inferred) - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Homozygous PubMed: Jaijo 2007; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1B ? PubMed: Jaijo 2007 Proband F - Italy - - - - - 1 Jose Maria Millan
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Unknown - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Heterozygous PubMed: Jaijo 2007; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1B ? PubMed: Jaijo 2007 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Unknown - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Heterozygous PubMed: Najera 2002; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1B ? PubMed: Najera 2002 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Unknown - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Heterozygous PubMed: Jaijo 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA minigene, SEQ - - USH1B ? PubMed: Jaijo 2006 Relative F - Spain - - - - - 1 Jose Maria Millan
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Unknown - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Heterozygous PubMed: Najera 2002; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1B ? PubMed: Najera 2002 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Unknown - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Heterozygous PubMed: Jaijo 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1B ? PubMed: Jaijo 2006 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Unknown - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Heterozygous PubMed: Najera 2002; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1B ? PubMed: Najera 2002 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Unknown - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Heterozygous PubMed: Jaijo 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1B ? PubMed: Jaijo 2006 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Unknown - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Heterozygous PubMed: Najera 2002; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1B ? PubMed: Najera 2002 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Unknown - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Heterozygous PubMed: Najera 2002; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1B ? PubMed: Najera 2002 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Unknown - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Heterozygous PubMed: Jaijo 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA minigene, SEQ - - USH1B ? PubMed: Jaijo 2006 Proband - Minigene studies in Aparisi et al., 2013 M - Spain - - - - - 1 Jose Maria Millan
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Unknown - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Heterozygous PubMed: Jaijo 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA minigene, SEQ - - USH1B ? PubMed: Jaijo 2006 Proband - Minigene studies in Aparisi et al., 2013 M - Spain - - - - - 1 Jose Maria Millan
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Unknown - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Heterozygous PubMed: Jaijo 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA minigene, SEQ - - USH1B ? PubMed: Jaijo 2006 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Parent #1 - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Heterozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - DFNB ? PubMed: Roux 2011 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Paternal (inferred) - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband F - Italy - - - - - 1 Anne-Françoise Roux
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Maternal (inferred) - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband F - Italy - - - - - 1 Anne-Françoise Roux
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Paternal (inferred) - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Homozygous PubMed: Le Guédard-Méreuze 2010; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA minigene, SEQ - - USH1B ? PubMed: Le Guédard-Méreuze 2010 Proband F - Algeria - - - - - 1 Anne-Françoise Roux
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Maternal (inferred) - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Homozygous PubMed: Le Guédard-Méreuze 2010; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA minigene, SEQ - - USH1B ? PubMed: Le Guédard-Méreuze 2010 Proband F - Algeria - - - - - 1 Anne-Françoise Roux
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Paternal (inferred) - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband F - Tunisia - - - - - 1 Anne-Françoise Roux
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Maternal (inferred) - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband F - Tunisia - - - - - 1 Anne-Françoise Roux
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Paternal (inferred) - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Homozygous PubMed: Ammar-Khodja 2009; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1B ? PubMed: Ammar-Khodja 2009 Proband M - Algeria - - - - - 1 Anne-Françoise Roux
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Maternal (inferred) - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Homozygous PubMed: Ammar-Khodja 2009; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1B ? PubMed: Ammar-Khodja 2009 Proband M - Algeria - - - - - 1 Anne-Françoise Roux
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Paternal (inferred) - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Homozygous PubMed: Ammar-Khodja 2009; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1B ? PubMed: Ammar-Khodja 2009 Proband M - Algeria - - - - - 1 Anne-Françoise Roux
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Maternal (inferred) - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Homozygous PubMed: Ammar-Khodja 2009; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1B ? PubMed: Ammar-Khodja 2009 Proband M - Algeria - - - - - 1 Anne-Françoise Roux
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Unknown - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Heterozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA minigene, SEQ - - USH1B ? PubMed: Roux 2011 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Unknown - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Heterozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Unknown - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Heterozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Unknown - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Heterozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband M - - - - - - - 1 Anne-Françoise Roux
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Paternal (inferred) - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Maternal (inferred) - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Unknown - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Heterozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Unknown - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Heterozygous USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1B ? PubMed: Besnard, Garcia-Garcia 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Unknown - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Heterozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Unknown - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Heterozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Paternal (inferred) - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband M - - - - - - - 1 Anne-Françoise Roux
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Maternal (inferred) - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband M - - - - - - - 1 Anne-Françoise Roux
-/- 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Unknown - benign g.76912636A>T g.77201591A>T - - MYO7A_000054 Heterozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs2276288 Germline - - -TspRI - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband F - France - - - - - 1 Anne-Françoise Roux
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