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.

43 entries on 1 page. Showing entries 1 - 43.
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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     
-/- 27i c.3503+12_3503+33del r.(=) p.(=) - Unknown - benign g.76895772_76895793del g.77184727_77184748del - - MYO7A_000043 Heterozygous PubMed: Besnard, Garcia-Garcia 2014 - rs111033223 Germline - - -Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1; - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Besnard, Garcia-Garcia 2014 Proband M - - - - - - - 1 Anne-Françoise Roux
-/- 27i c.3503+12_3503+33del r.(=) p.(=) - Unknown - benign g.76895772_76895793del g.77184727_77184748del 3503+12_3503+33del22 - MYO7A_000043 Heterozygous PubMed: Roux 2006 - rs111033223 Germline - - -Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1; - - DNA SEQ - - USH1B ? PubMed: Roux 2006 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 27i c.3503+12_3503+33del r.= p.= - Paternal (inferred) - benign g.76895772_76895793del g.77184727_77184748del 3503+12_3503+33del22 - MYO7A_000043 Homozygous PubMed: Roux 2011 - rs111033223 Germline - - -Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1; - - DNA, RNA RT-PCR, SEQ - - USH1B ? PubMed: Roux 2011 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 27i c.3503+12_3503+33del r.= p.= - Maternal (inferred) - benign g.76895772_76895793del g.77184727_77184748del 3503+12_3503+33del22 - MYO7A_000043 Homozygous PubMed: Roux 2011 - rs111033223 Germline - - -Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1; - - DNA, RNA RT-PCR, SEQ - - USH1B ? PubMed: Roux 2011 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 27i c.3503+12_3503+33del r.(=) p.(=) - Unknown - benign g.76895772_76895793del g.77184727_77184748del 3503+12_3503+33del22 - MYO7A_000043 Heterozygous PubMed: Roux 2006 - rs111033223 Germline - - -Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1; - - DNA minigene, SEQ - - USH1B ? PubMed: Roux 2006 Proband M - Algeria - - - - - 1 Anne-Françoise Roux
-/- 27i c.3503+12_3503+33del r.(=) p.(=) - Unknown - benign g.76895772_76895793del g.77184727_77184748del 3503+12_3503+33del22 - MYO7A_000043 Heterozygous PubMed: Roux 2006 - rs111033223 Germline - - -Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1; - - DNA SEQ - - USH1B ? PubMed: Roux 2006 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 27i c.3503+12_3503+33del r.(=) p.(=) - Unknown - benign g.76895772_76895793del g.77184727_77184748del 3503+12_3503+33del22 - MYO7A_000043 Heterozygous PubMed: Roux 2006 - rs111033223 Germline - - -Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1; - - DNA SEQ - - USH1B ? PubMed: Roux 2006 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 27i c.3503+12_3503+33del r.(=) p.(=) - Unknown - benign g.76895772_76895793del g.77184727_77184748del 3503+12_3503+33del22 - MYO7A_000043 Heterozygous PubMed: Roux 2006 - rs111033223 Germline - - -Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1; - - DNA SEQ - - USH1B ? PubMed: Roux 2006 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 27i c.3503+12_3503+33del r.(=) p.(=) - Unknown - benign g.76895772_76895793del g.77184727_77184748del 3503+12_3503+33del22 - MYO7A_000043 Heterozygous PubMed: Roux 2011 - rs111033223 Germline - - -Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 27i c.3503+12_3503+33del r.(=) p.(=) - Unknown - benign g.76895772_76895793del g.77184727_77184748del 3503+12_3503+33del22 - MYO7A_000043 Heterozygous PubMed: Roux 2006 - rs111033223 Germline - - -Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1; - - DNA SEQ - - USH1B ? PubMed: Roux 2006 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 27i c.3503+12_3503+33del r.(=) p.(=) - Paternal (inferred) - benign g.76895772_76895793del g.77184727_77184748del 3503+12_3503+33del22 - MYO7A_000043 Homozygous PubMed: Roux 2006 - rs111033223 Germline - - -Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1; - - DNA SEQ - - USH1B ? PubMed: Roux 2006 Proband M - Turkey - - - - - 1 Anne-Françoise Roux
-/- 27i c.3503+12_3503+33del r.(=) p.(=) - Maternal (inferred) - benign g.76895772_76895793del g.77184727_77184748del 3503+12_3503+33del22 - MYO7A_000043 Homozygous PubMed: Roux 2006 - rs111033223 Germline - - -Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1; - - DNA SEQ - - USH1B ? PubMed: Roux 2006 Proband M - Turkey - - - - - 1 Anne-Françoise Roux
-/- 27i c.3503+12_3503+33del r.(=) p.(=) - Paternal (inferred) - benign g.76895772_76895793del g.77184727_77184748del 3503+12_3503+33del22 - MYO7A_000043 Homozygous - - rs111033223 Germline - - -Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1; - - DNA SEQ - - USH1B ? - Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 27i c.3503+12_3503+33del r.(=) p.(=) - Maternal (inferred) - benign g.76895772_76895793del g.77184727_77184748del 3503+12_3503+33del22 - MYO7A_000043 Homozygous - - rs111033223 Germline - - -Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1; - - DNA SEQ - - USH1B ? - Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 27i c.3503+12_3503+33del r.(=) p.(=) - Unknown - benign g.76895772_76895793del g.77184727_77184748del 3503+12_3503+33del22 - MYO7A_000043 Heterozygous PubMed: Roux 2006 - rs111033223 Germline - - -Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1; - - DNA minigene, SEQ - - USH1B ? PubMed: Roux 2006 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 27i c.3503+12_3503+33del r.(=) p.(=) - Unknown - benign g.76895772_76895793del g.77184727_77184748del 3503+12_3503+33del22 - MYO7A_000043 Heterozygous PubMed: Roux 2011 - rs111033223 Germline - - -Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband M - - north Africa - - - - 1 Anne-Françoise Roux
-/- 27i c.3503+12_3503+33del r.(=) p.(=) - Paternal (inferred) - benign g.76895772_76895793del g.77184727_77184748del 3503+12_3503+33del22 - MYO7A_000043 Homozygous PubMed: Le Guédard-Méreuze 2010 - rs111033223 Germline - - -Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1; - - DNA minigene, SEQ - - USH1B ? PubMed: Le Guédard-Méreuze 2010 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 27i c.3503+12_3503+33del r.(=) p.(=) - Maternal (inferred) - benign g.76895772_76895793del g.77184727_77184748del 3503+12_3503+33del22 - MYO7A_000043 Homozygous PubMed: Le Guédard-Méreuze 2010 - rs111033223 Germline - - -Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1; - - DNA minigene, SEQ - - USH1B ? PubMed: Le Guédard-Méreuze 2010 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 27i c.3503+12_3503+33del r.(=) p.(=) - Unknown - benign g.76895772_76895793del g.77184727_77184748del 3503+12_3503+33del22 - MYO7A_000043 Heterozygous PubMed: Roux 2011 - rs111033223 Germline - - -Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 27i c.3503+12_3503+33del r.(=) p.(=) - Paternal (inferred) - benign g.76895772_76895793del g.77184727_77184748del 3503+12_3503+33del22 - MYO7A_000043 Homozygous PubMed: Roux 2011 - rs111033223 Germline - - -Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 27i c.3503+12_3503+33del r.(=) p.(=) - Maternal (inferred) - benign g.76895772_76895793del g.77184727_77184748del 3503+12_3503+33del22 - MYO7A_000043 Homozygous PubMed: Roux 2011 - rs111033223 Germline - - -Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 27i c.3503+12_3503+33del r.(=) p.(=) - Unknown - benign g.76895772_76895793del g.77184727_77184748del 3503+12_3503+33del22 - MYO7A_000043 Heterozygous PubMed: Gerber 2006 - rs111033223 Germline - - -Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1; - - DNA SEQ - - USH1B ? PubMed: Gerber 2006 Proband - - France - - - - - 1 Anne-Françoise Roux
-/- 27i c.3503+12_3503+33del r.(=) p.(=) - Paternal (inferred) - benign g.76895772_76895793del g.77184727_77184748del 3503+12_3503+33del22 - MYO7A_000043 Homozygous PubMed: Gerber 2006 - rs111033223 Germline - - -Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1; - - DNA SEQ - - USH1B ? PubMed: Gerber 2006 Proband - - France - - - - - 1 Anne-Françoise Roux
-/- 27i c.3503+12_3503+33del r.(=) p.(=) - Maternal (inferred) - benign g.76895772_76895793del g.77184727_77184748del 3503+12_3503+33del22 - MYO7A_000043 Homozygous PubMed: Gerber 2006 - rs111033223 Germline - - -Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1; - - DNA SEQ - - USH1B ? PubMed: Gerber 2006 Proband - - France - - - - - 1 Anne-Françoise Roux
-/- 27i c.3503+12_3503+33del r.(=) p.(=) - Paternal (inferred) - benign g.76895772_76895793del g.77184727_77184748del 3503+12_3503+33del22 - MYO7A_000043 Homozygous PubMed: Roux 2011 - rs111033223 Germline - - -Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband F - Italy - - - - - 1 Anne-Françoise Roux
-/- 27i c.3503+12_3503+33del r.(=) p.(=) - Maternal (inferred) - benign g.76895772_76895793del g.77184727_77184748del 3503+12_3503+33del22 - MYO7A_000043 Homozygous PubMed: Roux 2011 - rs111033223 Germline - - -Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband F - Italy - - - - - 1 Anne-Françoise Roux
-/- 27i c.3503+12_3503+33del r.(=) p.(=) - Paternal (inferred) - benign g.76895772_76895793del g.77184727_77184748del 3503+12_3503+33del22 - MYO7A_000043 Homozygous PubMed: Le Guédard-Méreuze 2010 - rs111033223 Germline - - -Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1; - - DNA minigene, SEQ - - USH1B ? PubMed: Le Guédard-Méreuze 2010 Proband F - Algeria - - - - - 1 Anne-Françoise Roux
-/- 27i c.3503+12_3503+33del r.(=) p.(=) - Maternal (inferred) - benign g.76895772_76895793del g.77184727_77184748del 3503+12_3503+33del22 - MYO7A_000043 Homozygous PubMed: Le Guédard-Méreuze 2010 - rs111033223 Germline - - -Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1; - - DNA minigene, SEQ - - USH1B ? PubMed: Le Guédard-Méreuze 2010 Proband F - Algeria - - - - - 1 Anne-Françoise Roux
-/- 27i c.3503+12_3503+33del r.(=) p.(=) - Paternal (inferred) - benign g.76895772_76895793del g.77184727_77184748del 3503+12_3503+33del22 - MYO7A_000043 Homozygous PubMed: Ammar-Khodja 2009 - rs111033223 Germline - - -Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1; - - DNA SEQ - - USH1B ? PubMed: Ammar-Khodja 2009 Proband M - Algeria - - - - - 1 Anne-Françoise Roux
-/- 27i c.3503+12_3503+33del r.(=) p.(=) - Maternal (inferred) - benign g.76895772_76895793del g.77184727_77184748del 3503+12_3503+33del22 - MYO7A_000043 Homozygous PubMed: Ammar-Khodja 2009 - rs111033223 Germline - - -Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1; - - DNA SEQ - - USH1B ? PubMed: Ammar-Khodja 2009 Proband M - Algeria - - - - - 1 Anne-Françoise Roux
-/- 27i c.3503+12_3503+33del r.(=) p.(=) - Paternal (inferred) - benign g.76895772_76895793del g.77184727_77184748del 3503+12_3503+33del22 - MYO7A_000043 Homozygous PubMed: Ammar-Khodja 2009 - rs111033223 Germline - - -Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1; - - DNA SEQ - - USH1B ? PubMed: Ammar-Khodja 2009 Proband M - Algeria - - - - - 1 Anne-Françoise Roux
-/- 27i c.3503+12_3503+33del r.(=) p.(=) - Maternal (inferred) - benign g.76895772_76895793del g.77184727_77184748del 3503+12_3503+33del22 - MYO7A_000043 Homozygous PubMed: Ammar-Khodja 2009 - rs111033223 Germline - - -Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1; - - DNA SEQ - - USH1B ? PubMed: Ammar-Khodja 2009 Proband M - Algeria - - - - - 1 Anne-Françoise Roux
-/- 27i c.3503+12_3503+33del r.(=) p.(=) - Unknown - benign g.76895772_76895793del g.77184727_77184748del 3503+12_3503+33del22 - MYO7A_000043 Heterozygous PubMed: Roux 2011 - rs111033223 Germline - - -Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1; - - DNA minigene, SEQ - - USH1B ? PubMed: Roux 2011 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 27i c.3503+12_3503+33del r.(=) p.(=) - Unknown - benign g.76895772_76895793del g.77184727_77184748del 3503+12_3503+33del22 - MYO7A_000043 Heterozygous PubMed: Roux 2011 - rs111033223 Germline - - -Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 27i c.3503+12_3503+33del r.(=) p.(=) - Unknown - benign g.76895772_76895793del g.77184727_77184748del 3503+12_3503+33del22 - MYO7A_000043 Heterozygous PubMed: Roux 2011 - rs111033223 Germline - - -Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband M - - - - - - - 1 Anne-Françoise Roux
-/- 27i c.3503+12_3503+33del r.(=) p.(=) - Unknown - benign g.76895772_76895793del g.77184727_77184748del 3503+12_3503+33del22 - MYO7A_000043 Heterozygous PubMed: Roux 2011 - rs111033223 Germline - - -Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 27i c.3503+12_3503+33del r.(=) p.(=) - Unknown - benign g.76895772_76895793del g.77184727_77184748del 3503+12_3503+33del22 - MYO7A_000043 Heterozygous - - rs111033223 Germline - - -Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1; - - DNA SEQ - - USH1B ? PubMed: Besnard, Garcia-Garcia 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 27i c.3503+12_3503+33del r.(=) p.(=) - Unknown - benign g.76895772_76895793del g.77184727_77184748del 3503+12_3503+33del22 - MYO7A_000043 Heterozygous PubMed: Roux 2011 - rs111033223 Germline - - -Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 27i c.3503+12_3503+33del r.(=) p.(=) - Paternal (inferred) - benign g.76895772_76895793del g.77184727_77184748del 3503+12_3503+33del22 - MYO7A_000043 Homozygous PubMed: Roux 2011 - rs111033223 Germline - - -Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 27i c.3503+12_3503+33del r.(=) p.(=) - Maternal (inferred) - benign g.76895772_76895793del g.77184727_77184748del 3503+12_3503+33del22 - MYO7A_000043 Homozygous PubMed: Roux 2011 - rs111033223 Germline - - -Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 27i c.3503+12_3503+33del r.(=) p.(=) - Unknown - benign g.76895772_76895793del g.77184727_77184748del 3503+12_3503+33del22 - MYO7A_000043 Heterozygous PubMed: Roux 2011 - rs111033223 Germline - - -Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband M - - - - - - - 1 Anne-Françoise Roux
-/- 27i c.3503+12_3503+33del r.(=) p.(=) - Unknown - benign g.76895772_76895793del g.77184727_77184748del 3503+12_3503+33del22 - MYO7A_000043 Heterozygous PubMed: Roux 2011 - rs111033223 Germline - - -Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband F - France - - - - - 1 Anne-Françoise Roux
-?/. - c.3503+12_3503+33del r.(=) p.(=) - Both (homozygous) - likely benign g.76895772_76895793del g.77184727_77184748del c.3515_3536del - MYO7A_000043 - - - rs111033223 Germline - 4/314 cases - - - DNA SEQ-NG - - retinal disease RP240 PubMed: Xu 2015 2-generation family, 1 affected, unaffected carrier parents M - China - - - - - 1 Johan den Dunnen
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