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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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.3924+12C>T r.(=) p.(=) - Unknown - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 30i c.3924+12C>T r.(=) p.(=) - Unknown - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Heterozygous PubMed: Besnard, Garcia-Garcia 2014 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Besnard, Garcia-Garcia 2014 Proband M - - - - - - - 1 Anne-Françoise Roux
-/- 30i c.3924+12C>T r.(=) p.(=) - Paternal (inferred) - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Homozygous; Neutral PubMed: Le Quesne Stabej 2012 - rs2276285 Germline - 0/96 controls +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 30i c.3924+12C>T r.(=) p.(=) - Maternal (inferred) - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Homozygous; Neutral PubMed: Le Quesne Stabej 2012 - rs2276285 Germline - 0/96 controls +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 30i c.3924+12C>T r.(=) p.(=) - Unknown - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Heterozygous PubMed: Roux 2006 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1B ? PubMed: Roux 2006 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 30i c.3924+12C>T r.= p.= - Paternal (inferred) - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Homozygous PubMed: Roux 2011 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA, RNA RT-PCR, SEQ - - USH1B ? PubMed: Roux 2011 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 30i c.3924+12C>T r.= p.= - Maternal (inferred) - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Homozygous PubMed: Roux 2011 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA, RNA RT-PCR, SEQ - - USH1B ? PubMed: Roux 2011 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 30i c.3924+12C>T r.(=) p.(=) - Unknown - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Heterozygous PubMed: Roux 2006 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA minigene, SEQ - - USH1B ? PubMed: Roux 2006 Proband M - Algeria - - - - - 1 Anne-Françoise Roux
-/- 30i c.3924+12C>T r.(=) p.(=) - Paternal (inferred) - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Homozygous PubMed: Roux 2006 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1B ? PubMed: Roux 2006 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 30i c.3924+12C>T r.(=) p.(=) - Maternal (inferred) - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Homozygous PubMed: Roux 2006 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1B ? PubMed: Roux 2006 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 30i c.3924+12C>T r.(=) p.(=) - Paternal (inferred) - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Homozygous PubMed: Roux 2006 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1B ? PubMed: Roux 2006 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 30i c.3924+12C>T r.(=) p.(=) - Maternal (inferred) - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Homozygous PubMed: Roux 2006 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1B ? PubMed: Roux 2006 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 30i c.3924+12C>T r.(=) p.(=) - Paternal (inferred) - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Homozygous PubMed: Roux 2011 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 30i c.3924+12C>T r.(=) p.(=) - Maternal (inferred) - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Homozygous PubMed: Roux 2011 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 30i c.3924+12C>T r.(=) p.(=) - Paternal (inferred) - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Homozygous PubMed: Roux 2006 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1B ? PubMed: Roux 2006 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 30i c.3924+12C>T r.(=) p.(=) - Maternal (inferred) - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Homozygous PubMed: Roux 2006 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1B ? PubMed: Roux 2006 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 30i c.3924+12C>T r.(=) p.(=) - Paternal (inferred) - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Homozygous PubMed: Roux 2006 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1B ? PubMed: Roux 2006 Proband M - Turkey - - - - - 1 Anne-Françoise Roux
-/- 30i c.3924+12C>T r.(=) p.(=) - Maternal (inferred) - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Homozygous PubMed: Roux 2006 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1B ? PubMed: Roux 2006 Proband M - Turkey - - - - - 1 Anne-Françoise Roux
-/- 30i c.3924+12C>T r.(=) p.(=) - Paternal (inferred) - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Homozygous PubMed: Roux 2006 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1B ? PubMed: Roux 2006 Proband M - Senegal - - - - - 1 Anne-Françoise Roux
-/- 30i c.3924+12C>T r.(=) p.(=) - Maternal (inferred) - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Homozygous PubMed: Roux 2006 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1B ? PubMed: Roux 2006 Proband M - Senegal - - - - - 1 Anne-Françoise Roux
-/- 30i c.3924+12C>T r.(=) p.(=) - Paternal (inferred) - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Homozygous - - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1B ? - Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 30i c.3924+12C>T r.(=) p.(=) - Maternal (inferred) - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Homozygous - - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1B ? - Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 30i c.3924+12C>T r.(=) p.(=) - Unknown - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Heterozygous PubMed: Roux 2006 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA minigene, SEQ - - USH1B ? PubMed: Roux 2006 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 30i c.3924+12C>T r.(=) p.(=) - Paternal (inferred) - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Homozygous PubMed: Le Guédard-Méreuze 2010 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA minigene, SEQ - - USH1B ? PubMed: Le Guédard-Méreuze 2010 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 30i c.3924+12C>T r.(=) p.(=) - Maternal (inferred) - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Homozygous PubMed: Le Guédard-Méreuze 2010 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA minigene, SEQ - - USH1B ? PubMed: Le Guédard-Méreuze 2010 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 30i c.3924+12C>T r.(=) p.(=) - Unknown - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Heterozygous PubMed: Roux 2011 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 30i c.3924+12C>T r.(=) p.(=) - Paternal (inferred) - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Homozygous PubMed: Roux 2011 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 30i c.3924+12C>T r.(=) p.(=) - Maternal (inferred) - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Homozygous PubMed: Roux 2011 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 30i c.3924+12C>T r.(=) p.(=) - Unknown - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Heterozygous PubMed: Roux 2011 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 30i c.3924+12C>T r.(=) p.(=) - Unknown - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Heterozygous PubMed: Roux 2011 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband M - - - - - - - 1 Anne-Françoise Roux
-/- 30i c.3924+12C>T r.(=) p.(=) - Unknown - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Heterozygous PubMed: Roux 2011 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 30i c.3924+12C>T r.(=) p.(=) - Parent #2 - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Heterozygous PubMed: Gerber 2006 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1B ? PubMed: Gerber 2006 Proband - - France - - - - - 1 Anne-Françoise Roux
-/- 30i c.3924+12C>T r.(=) p.(=) - Paternal (inferred) - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Homozygous PubMed: Gerber 2006 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1B ? PubMed: Gerber 2006 Proband - - France - - - - - 1 Anne-Françoise Roux
-/- 30i c.3924+12C>T r.(=) p.(=) - Maternal (inferred) - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Homozygous PubMed: Gerber 2006 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1B ? PubMed: Gerber 2006 Proband - - France - - - - - 1 Anne-Françoise Roux
-/- 30i c.3924+12C>T r.(=) p.(=) - Unknown - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Heterozygous PubMed: Luijendijk 2004 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - DFNA1 ? PubMed: Luijendijk 2004 Proband F - Netherlands - - - - - 1 Anne-Françoise Roux
-/- 30i c.3924+12C>T r.(=) p.(=) - Paternal (inferred) - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Homozygous PubMed: Jaijo 2006 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1B ? PubMed: Jaijo 2006 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 30i c.3924+12C>T r.(=) p.(=) - Maternal (inferred) - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Homozygous PubMed: Jaijo 2006 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1B ? PubMed: Jaijo 2006 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 30i c.3924+12C>T r.(=) p.(=) - Unknown - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Heterozygous PubMed: Cuevas 1999 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA minigene, RT-PCR, SEQ - - USH1B ? PubMed: Cuevas 1999 Proband - Minigene and Nasal cell studies in Aparisi et al., 2013 M - Spain - - - - - 1 Jose Maria Millan
-/- 30i c.3924+12C>T r.(=) p.(=) - Unknown - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Heterozygous PubMed: Jaijo 2006 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - 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
-/- 30i c.3924+12C>T r.(=) p.(=) - Unknown - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Heterozygous PubMed: Jaijo 2007 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1B ? PubMed: Jaijo 2007 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 30i c.3924+12C>T r.(=) p.(=) - Paternal (inferred) - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Homozygous PubMed: Jaijo 2007 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1B ? PubMed: Jaijo 2007 Proband F - Italy - - - - - 1 Jose Maria Millan
-/- 30i c.3924+12C>T r.(=) p.(=) - Maternal (inferred) - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Homozygous PubMed: Jaijo 2007 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1B ? PubMed: Jaijo 2007 Proband F - Italy - - - - - 1 Jose Maria Millan
-/- 30i c.3924+12C>T r.(=) p.(=) - Paternal (inferred) - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Homozygous PubMed: Jaijo 2007 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA minigene, SEQ - - USH1B ? PubMed: Jaijo 2007 Proband - Minigene studies in Aparisi et al., 2013 M - Italy - - - - - 1 Jose Maria Millan
-/- 30i c.3924+12C>T r.(=) p.(=) - Maternal (inferred) - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Homozygous PubMed: Jaijo 2007 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA minigene, SEQ - - USH1B ? PubMed: Jaijo 2007 Proband - Minigene studies in Aparisi et al., 2013 M - Italy - - - - - 1 Jose Maria Millan
-/- 30i c.3924+12C>T r.(=) p.(=) - Unknown - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Heterozygous PubMed: Jaijo 2007 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1B ? PubMed: Jaijo 2007 Proband F - Italy - - - - - 1 Jose Maria Millan
-/- 30i c.3924+12C>T r.(=) p.(=) - Unknown - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Heterozygous PubMed: Jaijo 2007 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1B ? PubMed: Jaijo 2007 Proband F - Italy - - - - - 1 Jose Maria Millan
-/- 30i c.3924+12C>T r.(=) p.(=) - Unknown - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Heterozygous PubMed: Najera 2002 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1B ? PubMed: Najera 2002 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 30i c.3924+12C>T r.(=) p.(=) - Unknown - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Heterozygous PubMed: Jaijo 2006 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA minigene, SEQ - - USH1B ? PubMed: Jaijo 2006 Relative F - Spain - - - - - 1 Jose Maria Millan
-/- 30i c.3924+12C>T r.(=) p.(=) - Paternal (inferred) - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Homozygous PubMed: Cuevas 1998 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1B ? PubMed: Cuevas 1998 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 30i c.3924+12C>T r.(=) p.(=) - Maternal (inferred) - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Homozygous PubMed: Cuevas 1998 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1B ? PubMed: Cuevas 1998 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 30i c.3924+12C>T r.(=) p.(=) - Unknown - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Heterozygous PubMed: Najera 2002 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1B ? PubMed: Najera 2002 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 30i c.3924+12C>T r.(=) p.(=) - Unknown - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Heterozygous PubMed: Jaijo 2006 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1B ? PubMed: Jaijo 2006 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 30i c.3924+12C>T r.(=) p.(=) - Unknown - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Heterozygous PubMed: Najera 2002 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1B ? PubMed: Najera 2002 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 30i c.3924+12C>T r.(=) p.(=) - Unknown - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Heterozygous PubMed: Najera 2002 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1B ? PubMed: Najera 2002 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 30i c.3924+12C>T r.(=) p.(=) - Unknown - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Heterozygous PubMed: Najera 2002 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1B ? PubMed: Najera 2002 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 30i c.3924+12C>T r.(=) p.(=) - Unknown - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Heterozygous PubMed: Jaijo 2006 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA minigene, SEQ - - USH1B ? PubMed: Jaijo 2006 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 30i c.3924+12C>T r.(=) p.(=) - Parent #1 - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Heterozygous PubMed: Roux 2011 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - DFNB ? PubMed: Roux 2011 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 30i c.3924+12C>T r.(=) p.(=) - Paternal (inferred) - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Homozygous PubMed: Roux 2011 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband F - Italy - - - - - 1 Anne-Françoise Roux
-/- 30i c.3924+12C>T r.(=) p.(=) - Maternal (inferred) - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Homozygous PubMed: Roux 2011 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband F - Italy - - - - - 1 Anne-Françoise Roux
-/- 30i c.3924+12C>T r.(=) p.(=) - Paternal (inferred) - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Homozygous PubMed: Le Guédard-Méreuze 2010 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA minigene, SEQ - - USH1B ? PubMed: Le Guédard-Méreuze 2010 Proband F - Algeria - - - - - 1 Anne-Françoise Roux
-/- 30i c.3924+12C>T r.(=) p.(=) - Maternal (inferred) - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Homozygous PubMed: Le Guédard-Méreuze 2010 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA minigene, SEQ - - USH1B ? PubMed: Le Guédard-Méreuze 2010 Proband F - Algeria - - - - - 1 Anne-Françoise Roux
-/- 30i c.3924+12C>T r.(=) p.(=) - Paternal (inferred) - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Homozygous PubMed: Roux 2011 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband F - Tunisia - - - - - 1 Anne-Françoise Roux
-/- 30i c.3924+12C>T r.(=) p.(=) - Maternal (inferred) - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Homozygous PubMed: Roux 2011 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband F - Tunisia - - - - - 1 Anne-Françoise Roux
-/- 30i c.3924+12C>T r.(=) p.(=) - Paternal (inferred) - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Homozygous PubMed: Ammar-Khodja 2009 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1B ? PubMed: Ammar-Khodja 2009 Proband M - Algeria - - - - - 1 Anne-Françoise Roux
-/- 30i c.3924+12C>T r.(=) p.(=) - Maternal (inferred) - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Homozygous PubMed: Ammar-Khodja 2009 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1B ? PubMed: Ammar-Khodja 2009 Proband M - Algeria - - - - - 1 Anne-Françoise Roux
-/- 30i c.3924+12C>T r.(=) p.(=) - Paternal (inferred) - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Homozygous PubMed: Ammar-Khodja 2009 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1B ? PubMed: Ammar-Khodja 2009 Proband M - Algeria - - - - - 1 Anne-Françoise Roux
-/- 30i c.3924+12C>T r.(=) p.(=) - Maternal (inferred) - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Homozygous PubMed: Ammar-Khodja 2009 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1B ? PubMed: Ammar-Khodja 2009 Proband M - Algeria - - - - - 1 Anne-Françoise Roux
-/- 30i c.3924+12C>T r.(=) p.(=) - Unknown - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Heterozygous PubMed: Roux 2011 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA minigene, SEQ - - USH1B ? PubMed: Roux 2011 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 30i c.3924+12C>T r.(=) p.(=) - Unknown - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Heterozygous PubMed: Roux 2011 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 30i c.3924+12C>T r.(=) p.(=) - Unknown - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Heterozygous PubMed: Roux 2011 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 30i c.3924+12C>T r.(=) p.(=) - Unknown - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Heterozygous - - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - Healthy/Control ? - Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 30i c.3924+12C>T r.(=) p.(=) - Unknown - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Heterozygous PubMed: Roux 2011 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband M - - - - - - - 1 Anne-Françoise Roux
-/- 30i c.3924+12C>T r.(=) p.(=) - Paternal (inferred) - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Homozygous PubMed: Roux 2011 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 30i c.3924+12C>T r.(=) p.(=) - Maternal (inferred) - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Homozygous PubMed: Roux 2011 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 30i c.3924+12C>T r.(=) p.(=) - Unknown - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Heterozygous PubMed: Roux 2011 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 30i c.3924+12C>T r.(=) p.(=) - Unknown - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Heterozygous - - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1B ? PubMed: Besnard, Garcia-Garcia 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 30i c.3924+12C>T r.(=) p.(=) - Unknown - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Heterozygous PubMed: Roux 2011 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 30i c.3924+12C>T r.(=) p.(=) - Unknown - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Heterozygous PubMed: Roux 2011 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 30i c.3924+12C>T r.(=) p.(=) - Paternal (inferred) - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Homozygous PubMed: Roux 2011 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 30i c.3924+12C>T r.(=) p.(=) - Maternal (inferred) - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Homozygous PubMed: Roux 2011 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 30i c.3924+12C>T r.(=) p.(=) - Paternal (inferred) - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Homozygous PubMed: Roux 2011 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband M - - - - - - - 1 Anne-Françoise Roux
-/- 30i c.3924+12C>T r.(=) p.(=) - Maternal (inferred) - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Homozygous PubMed: Roux 2011 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband M - - - - - - - 1 Anne-Françoise Roux
-/- 30i c.3924+12C>T r.(=) p.(=) - Unknown - benign g.76901927C>T g.77190882C>T - - MYO7A_000042 Heterozygous PubMed: Roux 2011 - rs2276285 Germline - - +PspGI;+BstNI;-HpaII;-NciI;-MspI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband F - France - - - - - 1 Anne-Françoise Roux
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