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.

22 entries on 1 page. Showing entries 1 - 22.
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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     

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VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.2005C>T r.(?) p.(Arg669Ter) - Unknown - pathogenic g.76885871C>T g.77174825C>T - - MYO7A_000209 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 17 c.2005C>T r.(?) p.(Arg669*) Motor domain (1-729) Unknown - pathogenic g.76885871C>T g.77174825C>T - - MYO7A_000209 Heterozygous PubMed: Bujakowska 2014 - rs111033201 Germline - - +DdeI;+BspCNI;+MspA1I;+BlpI;-BglI;-EciI; - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Bujakowska 2014 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 17 c.2005C>T r.(?) p.(Arg669*) Motor domain (1-729) Unknown - pathogenic g.76885871C>T g.77174825C>T - - MYO7A_000209 Heterozygous PubMed: Le Quesne Stabej 2012 - rs111033201 Germline - 0/878 controls +DdeI;+BspCNI;+MspA1I;+BlpI;-BglI;-EciI; - - DNA SEQ - - USH1 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 17 c.2005C>T r.(?) p.(Arg669*) Motor domain (1-729) Paternal (confirmed) - pathogenic g.76885871C>T g.77174825C>T - - MYO7A_000209 Heterozygous PubMed: Le Quesne Stabej 2012 - rs111033201 Germline - 0/878 controls +DdeI;+BspCNI;+MspA1I;+BlpI;-BglI;-EciI; - - DNA SEQ - - USH1 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 17 c.2005C>T r.(?) p.(Arg669*) Motor domain (1-729) Paternal (inferred) - pathogenic g.76885871C>T g.77174825C>T - - MYO7A_000209 Homozygous Weston 1998, Assoc Res Otolaryngol Abs, p. 46, 1998 - rs111033201 Germline - 0/192 controls +DdeI;+BspCNI;+MspA1I;+BlpI;-BglI;-EciI; - - DNA SEQ - - USH1B ? Weston 1998, Assoc Res Otolaryngol Abs, p. 46, 1998 Proband - - United States - - - - - 1 William J. Kimberling
+/+ 17 c.2005C>T r.(?) p.(Arg669*) Motor domain (1-729) Maternal (inferred) - pathogenic g.76885871C>T g.77174825C>T - - MYO7A_000209 Homozygous Weston 1998, Assoc Res Otolaryngol Abs, p. 46, 1998 - rs111033201 Germline - 0/192 controls +DdeI;+BspCNI;+MspA1I;+BlpI;-BglI;-EciI; - - DNA SEQ - - USH1B ? Weston 1998, Assoc Res Otolaryngol Abs, p. 46, 1998 Proband - - United States - - - - - 1 William J. Kimberling
+/+ 17 c.2005C>T r.(?) p.(Arg669*) Motor domain (1-729) Unknown - pathogenic g.76885871C>T g.77174825C>T - - MYO7A_000209 Heterozygous PubMed: Bharadwaj 2000 - rs111033201 Germline - - +DdeI;+BspCNI;+MspA1I;+BlpI;-BglI;-EciI; - - DNA SEQ - - USH1B ? PubMed: Bharadwaj 2000 Proband - - - - - - - - 1 Anne-Françoise Roux
+/+ 17 c.2005C>T r.(?) p.(Arg669*) Motor domain (1-729) Parent #1 - pathogenic g.76885871C>T g.77174825C>T - - MYO7A_000209 Heterozygous PubMed: Jacobson 2008 - rs111033201 Germline - - +DdeI;+BspCNI;+MspA1I;+BlpI;-BglI;-EciI; - - DNA SEQ - - USH1B ? PubMed: Jacobson 2008 Proband M - - - - - - - 1 Anne-Françoise Roux
+/+ 17 c.2005C>T r.(?) p.(Arg669*) Motor domain (1-729) Paternal (inferred) - pathogenic g.76885871C>T g.77174825C>T - - MYO7A_000209 Homozygous PubMed: Roux 2011 - rs111033201 Germline - - +DdeI;+BspCNI;+MspA1I;+BlpI;-BglI;-EciI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband F - Italy - - - - - 1 Anne-Françoise Roux
+/+ 17 c.2005C>T r.(?) p.(Arg669*) Motor domain (1-729) Maternal (inferred) - pathogenic g.76885871C>T g.77174825C>T - - MYO7A_000209 Homozygous PubMed: Roux 2011 - rs111033201 Germline - - +DdeI;+BspCNI;+MspA1I;+BlpI;-BglI;-EciI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband F - Italy - - - - - 1 Anne-Françoise Roux
+/+ 17 c.2005C>T r.(?) p.(Arg669*) Motor domain (1-729) Parent #1 - pathogenic g.76885871C>T g.77174825C>T - - MYO7A_000209 Heterozygous PubMed: Bonnet 2011 - rs111033201 Germline - - +DdeI;+BspCNI;+MspA1I;+BlpI;-BglI;-EciI; - - DNA SEQ - - USH1B ? PubMed: Bonnet 2011 Proband - - - - - - - - 1 Anne-Françoise Roux
+/+ 17 c.2005C>T r.(?) p.(Arg669*) Motor domain (1-729) Unknown - pathogenic g.76885871C>T g.77174825C>T - - MYO7A_000209 Homozygous; mutation PubMed: Krawitz 2014 - rs111033201 Germline - - +DdeI;+BspCNI;+MspA1I;+BlpI;-BglI;-EciI; - - DNA SEQ-NG-S - - USH1B ? PubMed: Krawitz 2014 Proband F - Germany - - - - - 1 Peter Krawitz
+/+ 17 c.2005C>T r.(?) p.(Arg669*) Motor domain (1-729) Unknown - pathogenic g.76885871C>T g.77174825C>T - - MYO7A_000209 Heterozygous PubMed: Bujakowska 2014 - rs111033201 Germline - - +DdeI;+BspCNI;+MspA1I;+BlpI;-BglI;-EciI; - - DNA SEQ, SEQ-NG-S - - USH1B ? PubMed: Bujakowska 2014 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 17 c.2005C>T r.(?) p.(Arg669*) Motor domain (1-729) Parent #1 - pathogenic g.76885871C>T g.77174825C>T - - MYO7A_000209 Heterozygous; mutation PubMed: Bonnet 2016 - rs111033201 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1B ? PubMed: Bonnet 2016 Proband M - France - - - - - 1 Crystel Bonnet
+/+ 17 c.2005C>T r.(?) p.(Arg669*) Motor domain (1-729) Parent #1 - pathogenic g.76885871C>T g.77174825C>T - - MYO7A_000209 Heterozygous; mutation PubMed: Bonnet 2016 - rs111033201 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1B ? PubMed: Bonnet 2016 Proband F - Italy - - - - - 1 Crystel Bonnet
+/. - c.2005C>T r.(?) p.(Arg669*) - Both (homozygous) - pathogenic (recessive) g.76885871C>T - - - MYO7A_000209 variant linked to deafness phenotype PubMed: Derar 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat2 PubMed: Derar 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.2005C>T r.(?) p.(Arg669*) - Unknown - pathogenic (recessive) g.76885871C>T - 11:76885871C>T ENST00000409709.3:c.2005C>T (Arg669Ter) - MYO7A_000209 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G001030 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+/. - c.2005C>T r.(?) p.(Arg669*) - Unknown - pathogenic (recessive) g.76885871C>T - 11:76885871C>T ENST00000409709.3:c.2005C>T (Arg669Ter) - MYO7A_000209 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G001027 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+?/. - c.2005C>T r.(?) p.(Arg669*) - Unknown - likely pathogenic g.76885871C>T g.77174825C>T c.1977delA p.(Gly660Glufs*2), c.2005C>T p.(Arg669*) - MYO7A_000209 - PubMed: Hagag 2020 - - Germline/De novo (untested) ? - - - - DNA ? - - retinal disease Subject 042 PubMed: Hagag 2020 - ? - - - - - - - 1 LOVD
+/. - c.2005C>T r.(?) p.(Arg669*) - Unknown - pathogenic g.76885871C>T g.77174825C>T MYO7A c.2005C>T, p.Arg669Ter - MYO7A_000209 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G001030 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. - c.2005C>T r.(?) p.(Arg669*) - Unknown - pathogenic g.76885871C>T g.77174825C>T MYO7A c.2005C>T, p.Arg669Ter - MYO7A_000209 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G001027 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. 17 c.2005C>T r.(?) p.(Arg669*) - Parent #1 - likely pathogenic (recessive) g.76885871C>T - c.2005C>T - MYO7A_000209 - PubMed: Khateb 2020 - - Germline - - - - - DNA ? - - retinal disease 1597918 PubMed: Khateb 2020 Simplex case F - - Austrian - - - - 1 LOVD
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