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.

28 entries on 1 page. Showing entries 1 - 28.
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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.93C>A r.(?) p.(Cys31Ter) - Unknown - pathogenic g.76853829C>A g.77142783C>A - - MYO7A_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.93C>A r.(?) p.(Cys31*) - Paternal (inferred) - pathogenic g.76853829C>A g.77142783C>A - - MYO7A_000012 Heterozygous PubMed: Le Quesne Stabej 2012 - rs35689081 Germline - 0/878 controls +Hpy188I;+BsmAI;+DdeI;+BspCNI; - - DNA SEQ - - USH1 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 3 c.93C>A r.(?) p.(Cys31*) - Paternal (inferred) - pathogenic g.76853829C>A g.77142783C>A - - MYO7A_000012 Homozygous PubMed: Janecke 1999, PubMed: Dad 2016 - rs35689081 Germline - - +Hpy188I;+BsmAI;+DdeI;+BspCNI; - - DNA SEQ - - USH1B ? PubMed: Janecke 1999, PubMed: Dad 2016 Proband - - Denmark - - - - - 1 Anne-Françoise Roux
+/+ 3 c.93C>A r.(?) p.(Cys31*) - Maternal (inferred) - pathogenic g.76853829C>A g.77142783C>A - - MYO7A_000012 Homozygous PubMed: Janecke 1999, PubMed: Dad 2016 - rs35689081 Germline - - +Hpy188I;+BsmAI;+DdeI;+BspCNI; - - DNA SEQ - - USH1B ? PubMed: Janecke 1999, PubMed: Dad 2016 Proband - - Denmark - - - - - 1 Anne-Françoise Roux
+/+ 3 c.93C>A r.(?) p.(Cys31*) - Paternal (inferred) - pathogenic g.76853829C>A g.77142783C>A - - MYO7A_000012 Homozygous PubMed: Janecke 1999, PubMed: Dad 2016 - rs35689081 Germline - - +Hpy188I;+BsmAI;+DdeI;+BspCNI; - - DNA SEQ - - USH1B ? PubMed: Janecke 1999, PubMed: Dad 2016 Proband - - Denmark - - - - - 1 Anne-Françoise Roux
+/+ 3 c.93C>A r.(?) p.(Cys31*) - Maternal (inferred) - pathogenic g.76853829C>A g.77142783C>A - - MYO7A_000012 Homozygous PubMed: Janecke 1999, PubMed: Dad 2016 - rs35689081 Germline - - +Hpy188I;+BsmAI;+DdeI;+BspCNI; - - DNA SEQ - - USH1B ? PubMed: Janecke 1999, PubMed: Dad 2016 Proband - - Denmark - - - - - 1 Anne-Françoise Roux
+/+ 3 c.93C>A r.(?) p.(Cys31*) - Paternal (inferred) - pathogenic g.76853829C>A g.77142783C>A - - MYO7A_000012 Homozygous PubMed: Janecke 1999, PubMed: Dad 2016 - rs35689081 Germline - - +Hpy188I;+BsmAI;+DdeI;+BspCNI; - - DNA SEQ - - USH1B ? PubMed: Janecke 1999, PubMed: Dad 2016 Proband - - Denmark - - - - - 1 Anne-Françoise Roux
+/+ 3 c.93C>A r.(?) p.(Cys31*) - Maternal (inferred) - pathogenic g.76853829C>A g.77142783C>A - - MYO7A_000012 Homozygous PubMed: Janecke 1999, PubMed: Dad 2016 - rs35689081 Germline - - +Hpy188I;+BsmAI;+DdeI;+BspCNI; - - DNA SEQ - - USH1B ? PubMed: Janecke 1999, PubMed: Dad 2016 Proband - - Denmark - - - - - 1 Anne-Françoise Roux
+/+ 3 c.93C>A r.(?) p.(Cys31*) - Unknown - pathogenic g.76853829C>A g.77142783C>A - - MYO7A_000012 Heterozygous PubMed: Janecke 1999, PubMed: Dad 2016 - rs35689081 Germline - - +Hpy188I;+BsmAI;+DdeI;+BspCNI; - - DNA SEQ - - USH1B ? PubMed: Janecke 1999, PubMed: Dad 2016 Proband - - Denmark - - - - - 1 Anne-Françoise Roux
+/+ 3 c.93C>A r.(?) p.(Cys31*) - Unknown - pathogenic g.76853829C>A g.77142783C>A - - MYO7A_000012 Heterozygous PubMed: Janecke 1999, PubMed: Dad 2016 - rs35689081 Germline - - +Hpy188I;+BsmAI;+DdeI;+BspCNI; - - DNA SEQ - - USH1B ? PubMed: Janecke 1999, PubMed: Dad 2016 Proband - - Denmark - - - - - 1 Anne-Françoise Roux
+/+ 3 c.93C>A r.(?) p.(Cys31*) - Parent #1 - pathogenic g.76853829C>A g.77142783C>A - - MYO7A_000012 - PubMed: Janecke 1999, PubMed: Dad 2016, PubMed: Dad 2016 - rs35689081 Germline - - +Hpy188I;+BsmAI;+DdeI;+BspCNI; - - DNA SEQ - - USH ?;USH1-7 PubMed: Janecke 1999, PubMed: Dad 2016 proband M - Denmark - - - - - 1 Anne-Françoise Roux
+/+ 3 c.93C>A r.(?) p.(Cys31*) - Unknown - pathogenic g.76853829C>A g.77142783C>A - - MYO7A_000012 Heterozygous PubMed: Weston 1996 - rs35689081 Germline - - +Hpy188I;+BsmAI;+DdeI;+BspCNI; - - DNA SEQ - - USH1B ? PubMed: Weston 1996 Proband - - Netherlands - - - - - 1 William J. Kimberling
+/+ 3 c.93C>A r.(?) p.(Cys31*) - Parent #1 - pathogenic g.76853829C>A g.77142783C>A - - MYO7A_000012 Heterozygous PubMed: Jacobson 2008 - rs35689081 Germline - - +Hpy188I;+BsmAI;+DdeI;+BspCNI; - - DNA SEQ - - USH1B ? PubMed: Jacobson 2008 Proband M - - - - - - - 1 Anne-Françoise Roux
+/+ 3 c.93C>A r.(?) p.(Cys31*) - Unknown - pathogenic g.76853829C>A g.77142783C>A - - MYO7A_000012 Heterozygous; mutation PubMed: Krawitz 2014 - rs35689081 Germline - - +Hpy188I;+BsmAI;+DdeI;+BspCNI; - - DNA SEQ-NG-S - - USH1B ? PubMed: Krawitz 2014 Proband F - Germany - - - - - 1 Peter Krawitz
+/. 3 c.93C>A r.(?) p.(Cys31*) - Both (homozygous) - pathogenic (recessive) g.76853829C>A g.77142783C>A - - MYO7A_000012 - PubMed: Dad 2016 - - Germline - - - - - DNA SEQ-NG - gene panel USH retinal disease USH1-2 PubMed: Dad 2016 - F no Denmark - - - - - 1 LOVD
+/. 3 c.93C>A r.(?) p.(Cys31*) - Both (homozygous) - pathogenic (recessive) g.76853829C>A g.77142783C>A - - MYO7A_000012 - Tranebjaerg 2011, PubMed: Dad 2016 - - Germline - - - - - DNA PE - - retinal disease USH1-5 Tranebjaerg 2011, PubMed: Dad 2016 family, 2 affeted F no Denmark - - - - - 2 LOVD
+/. 3 c.93C>A r.(?) p.(Cys31*) - Both (homozygous) - pathogenic (recessive) g.76853829C>A g.77142783C>A - - MYO7A_000012 - Tranebjaerg 2011, PubMed: Dad 2016 - - Germline - - - - - DNA PE - - retinal disease USH1-5A Tranebjaerg 2011, PubMed: Dad 2016 - F no Denmark - - - - - 1 LOVD
+/. 3 c.93C>A r.(?) p.(Cys31*) - Parent #1 - pathogenic (recessive) g.76853829C>A g.77142783C>A - - MYO7A_000012 - PubMed: Cremers 2007 - - Germline - - - - - DNA PE - - retinal disease USH1-18 PubMed: Cremers 2007 - M no Denmark - - - - - 1 LOVD
+/. 3 c.93C>A r.(?) p.(Cys31*) - Parent #1 - pathogenic (recessive) g.76853829C>A g.77142783C>A - - MYO7A_000012 - PubMed: Cremers 2007 - - Germline - - - - - DNA PE - - retinal disease USH1-28 PubMed: Cremers 2007 - F no Denmark - - - - - 1 LOVD
+/. 3 c.93C>A r.(?) p.(Cys31*) - Both (homozygous) - pathogenic (recessive) g.76853829C>A g.77142783C>A - - MYO7A_000012 - PubMed: Dad 2016 - - Germline - - - - - DNA SEQ-NG - gene panel USH retinal disease USH1-31 PubMed: Dad 2016 - F no Denmark - - - - - 1 LOVD
+/. 3 c.93C>A r.(?) p.(Cys31*) - Parent #2 - pathogenic (recessive) g.76853829C>A g.77142783C>A - - MYO7A_000012 - PubMed: Dad 2016 - - Germline - - - - - DNA SEQ-NG - gene panel USH retinal disease USH1-1 PubMed: Dad 2016 - F no Denmark - - - - - 1 LOVD
+/. 3 c.93C>A r.(?) p.(Cys31*) - Parent #2 - pathogenic (recessive) g.76853829C>A g.77142783C>A - - MYO7A_000012 - PubMed: Dad 2016 - - Germline - - - - - DNA SEQ-NG - gene panel USH retinal disease USH1-3 PubMed: Dad 2016 - F no Denmark - - - - - 1 LOVD
+/. - c.93C>A r.(?) p.(Cys31*) - Unknown ACMG pathogenic g.76853829C>A g.77142783C>A MYO7A c.93C>A, p.(Cys31*) - MYO7A_000012 single heterozygous variant (recessive) PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 431 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. - c.93C>A r.(?) p.(Cys31*) - Unknown - likely pathogenic g.76853829C>A g.77142783C>A c.93C>A p.(Cys31*), c.5648G>A p.(Arg1883Gln) - MYO7A_000012 - PubMed: Hagag 2020 - - Germline/De novo (untested) ? - - - - DNA ? - - retinal disease Subject 034 PubMed: Hagag 2020 - ? - - - - - - - 1 LOVD
+/. - c.93C>A r.(?) p.(Cys31Ter) - Both (homozygous) ACMG pathogenic g.76853829C>A - - - MYO7A_000012 - PubMed: Mansard et al, 2021 - rs35689081 Germline - - - - - DNA SEQ-NG, SEQ - - USH1 - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+/. - c.93C>A r.(?) p.(Cys31Ter) - Both (homozygous) ACMG pathogenic g.76853829C>A - - - MYO7A_000012 - PubMed: Mansard et al, 2021 - rs35689081 Germline - - - - - DNA SEQ-NG, SEQ - - USH1 - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+/. - c.93C>A r.(?) p.(Cys31Ter) - Both (homozygous) ACMG pathogenic g.76853829C>A - - - MYO7A_000012 - PubMed: Mansard et al, 2021 - rs35689081 Germline - - - - - DNA SEQ-NG, SEQ - - USH1 - PubMed: Mansard et al, 2021 - M - - - - - - - 1 Anne-Françoise Roux
+/. - c.93C>A r.(?) p.(Cys31Ter) - Paternal (confirmed) - pathogenic (recessive) g.76853829C>A g.77142783C>A - - MYO7A_000012 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL PKDF173 PubMed: Richard 2019 3-generation family, 4 affected (2F, 2M) - yes Pakistan - - - - - 4 Johan den Dunnen
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