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.

32 entries on 1 page. Showing entries 1 - 32.
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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     
+?/. 7 c.640G>A r.(?) p.(Gly214Arg) - Unknown - likely pathogenic g.76867955G>A g.77156909G>A - - MYO7A_000118 - Sharon, submitted - - Germline - - - - - DNA SEQ - - USH1 - Sharon, submitted - M no Israel Morocco;Jewish - - - - 1 Dror Sharon
+/+ 7 c.640G>A r.(?) p.(Gly214Arg) Motor domain (1-729) Unknown - pathogenic g.76867955G>A g.77156909G>A - - MYO7A_000118 Heterozygous PubMed: Bujakowska 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033283 Germline - - none - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Bujakowska 2014 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 7 c.640G>A r.(?) p.(Gly214Arg) Motor domain (1-729) Maternal (confirmed) - pathogenic g.76867955G>A g.77156909G>A - - MYO7A_000118 Heterozygous PubMed: Le Quesne Stabej 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033283 Germline - 0/878 controls none - - DNA SEQ - - USH1 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 7 c.640G>A r.(?) p.(Gly214Arg) Motor domain (1-729) Parent #1 - pathogenic g.76867955G>A g.77156909G>A - - MYO7A_000118 Heterozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033283 Germline - - none - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband F - France - - - - - 1 Anne-Françoise Roux
+/+ 7 c.640G>A r.(?) p.(Gly214Arg) Motor domain (1-729) Paternal (inferred) - pathogenic g.76867955G>A g.77156909G>A - - MYO7A_000118 Homozygous PubMed: Adato 1997; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033283 Germline - 0/200 controls none - - DNA SEQ - - USH1B ? PubMed: Adato 1997 Proband - - Morocco - - - - - 1 Anne-Françoise Roux
+/+ 7 c.640G>A r.(?) p.(Gly214Arg) Motor domain (1-729) Maternal (inferred) - pathogenic g.76867955G>A g.77156909G>A - - MYO7A_000118 Homozygous PubMed: Adato 1997; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033283 Germline - 0/200 controls none - - DNA SEQ - - USH1B ? PubMed: Adato 1997 Proband - - Morocco - - - - - 1 Anne-Françoise Roux
+?/? 7 c.640G>A r.(?) p.(Gly214Arg) Motor domain (1-729) Parent #1 - pathogenic g.76867955G>A g.77156909G>A - - MYO7A_000118 Heterozygous PubMed: Adato 1997; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033283 Germline - 0/200 controls none - - DNA SEQ - - USH1B ? PubMed: Adato 1997 Proband - - Morocco - - - - - 1 Anne-Françoise Roux
+/+ 7 c.640G>A r.(?) p.(Gly214Arg) Motor domain (1-729) Parent #1 - pathogenic g.76867955G>A g.77156909G>A - - MYO7A_000118 Heterozygous PubMed: Jaijo 2010; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033283 Germline - - none - - DNA SEQ - - USH2 ? PubMed: Jaijo 2010 Proband - - Spain - - - - - 1 Jose Maria Millan
+/+ 7 c.640G>A r.(?) p.(Gly214Arg) Motor domain (1-729) Paternal (inferred) - pathogenic g.76867955G>A g.77156909G>A - - MYO7A_000118 Homozygous PubMed: Jaijo 2010; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033283 Germline - - none - - DNA SEQ - - USH1B ? PubMed: Jaijo 2010 Proband - - Spain - - - - - 1 Jose Maria Millan
+/+ 7 c.640G>A r.(?) p.(Gly214Arg) Motor domain (1-729) Maternal (inferred) - pathogenic g.76867955G>A g.77156909G>A - - MYO7A_000118 Homozygous PubMed: Jaijo 2010; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033283 Germline - - none - - DNA SEQ - - USH1B ? PubMed: Jaijo 2010 Proband - - Spain - - - - - 1 Jose Maria Millan
+/+ 7 c.640G>A r.(?) p.(Gly214Arg) Motor domain (1-729) Parent #2 - pathogenic g.76867955G>A g.77156909G>A - - MYO7A_000118 Heterozygous PubMed: Najera 2002; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033283 Germline - - none - - DNA SEQ - - USH1B ? PubMed: Najera 2002 Proband M - Spain - - - - - 1 Jose Maria Millan
+/+ 7 c.640G>A r.(?) p.(Gly214Arg) Motor domain (1-729) Unknown - pathogenic g.76867955G>A g.77156909G>A - - MYO7A_000118 Heterozygous PubMed: Jaijo 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033283 Germline - - none - - DNA minigene, SEQ - - USH1B ? PubMed: Jaijo 2006 Proband - Minigene studies in Aparisi et al., 2013 M - Spain - - - - - 1 Jose Maria Millan
+/+ 7 c.640G>A r.(?) p.(Gly214Arg) Motor domain (1-729) Parent #1 - pathogenic g.76867955G>A g.77156909G>A - - MYO7A_000118 Heterozygous PubMed: Jaijo 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033283 Germline - - none - - DNA minigene, SEQ - - USH1B ? PubMed: Jaijo 2006 Proband M - Spain - - - - - 1 Jose Maria Millan
+/+ 7 c.640G>A r.(?) p.(Gly214Arg) Motor domain (1-729) Paternal (inferred) - pathogenic g.76867955G>A g.77156909G>A - - MYO7A_000118 Homozygous PubMed: Riazuddin 2008; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033283 Germline - - none - - DNA SEQ - - USH1B ? PubMed: Riazuddin 2008 Proband - - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 7 c.640G>A r.(?) p.(Gly214Arg) Motor domain (1-729) Maternal (inferred) - pathogenic g.76867955G>A g.77156909G>A - - MYO7A_000118 Homozygous PubMed: Riazuddin 2008; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033283 Germline - - none - - DNA SEQ - - USH1B ? PubMed: Riazuddin 2008 Proband - - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 7 c.640G>A r.(?) p.(Gly214Arg) Motor domain (1-729) Paternal (inferred) - pathogenic g.76867955G>A g.77156909G>A - - MYO7A_000118 Homozygous PubMed: Riazuddin 2008; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033283 Germline - - none - - DNA SEQ - - USH1B ? PubMed: Riazuddin 2008 Proband - - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 7 c.640G>A r.(?) p.(Gly214Arg) Motor domain (1-729) Maternal (inferred) - pathogenic g.76867955G>A g.77156909G>A - - MYO7A_000118 Homozygous PubMed: Riazuddin 2008; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033283 Germline - - none - - DNA SEQ - - USH1B ? PubMed: Riazuddin 2008 Proband - - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 7 c.640G>A r.(?) p.(Gly214Arg) Motor domain (1-729) Unknown - pathogenic g.76867955G>A g.77156909G>A - - MYO7A_000118 Heterozygous PubMed: Bujakowska 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033283 Germline - - none - - DNA SEQ, SEQ-NG-S - - USH1B ? PubMed: Bujakowska 2014 Proband - - United States - - - - - 1 David Baux
+/+ 7 c.640G>A r.(?) p.(Gly214Arg) Motor domain (1-729) Parent #2 - pathogenic g.76867955G>A g.77156909G>A - - MYO7A_000118 Heterozygous; mutation PubMed: Bonnet 2016; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033283 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1B ? PubMed: Bonnet 2016 Proband - - France - - - - - 1 Crystel Bonnet
+/+ 7 c.640G>A r.(?) p.(Gly214Arg) Motor domain (1-729) Unknown - pathogenic g.76867955G>A g.77156909G>A - - MYO7A_000118 Heterozygous; mutation PubMed: Bonnet 2016; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033283 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1B ? PubMed: Bonnet 2016 Proband M - France - - - - - 1 Crystel Bonnet
+?/. - c.640G>A r.(?) p.(Gly214Arg) - Unknown ACMG likely pathogenic g.76867955G>A - - - MYO7A_000118 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+/. - c.640G>A r.(?) p.(Gly214Arg) - Parent #2 - pathogenic g.76867955G>A g.77156909G>A - - MYO7A_000118 - PubMed: Neuhaus 2017 - rs111033283 Germline - - - - - DNA SEQ-NG - gene panel USH Pat101 PubMed: Neuhaus 2017 - - no Saudi Arabia - - - - - 1 LOVD
+/. - c.640G>A r.(?) p.(Gly214Arg) - Maternal (confirmed) ACMG pathogenic g.76867955G>A - - - MYO7A_000118 - PubMed: Mansard et al, 2021 - rs111033283 Germline - - - - - DNA SEQ-NG, SEQ - - USH1 - PubMed: Mansard et al, 2021 - M - - - - - - - 1 Anne-Françoise Roux
?/. 7 c.640G>A r.(?) p.(Gly214Arg) - Unknown - VUS g.76867955G>A - c.640G>A - MYO7A_000118 - PubMed: Khalaileh-2018 - - Unknown - - - - - DNA PCR, SEQ blood - retinal disease - PubMed: Khalaileh-2018 - - yes - North African Jew - - - - 1 LOVD
+?/. 7 c.640G>A r.(?) p.(Gly214Arg) - Parent #2 - likely pathogenic (recessive) g.76867955G>A - c.640G>A p.Gly214Arg - MYO7A_000118 - PubMed: Khateb 2020 - - Germline - - - - - DNA ? - - retinal disease CIC7493 PubMed: Khateb 2020 multiple affected subjects F - - French - - - - 1 LOVD
+?/. 7 c.640G>A r.(?) p.(Gly214Arg) - Parent #2 - likely pathogenic (recessive) g.76867955G>A - c.640G>A p.Gly214Arg - MYO7A_000118 - PubMed: Khateb 2020 - - Germline - - - - - DNA ? - - retinal disease CIC08086 PubMed: Khateb 2020 multiple affected subjects M - - French - - - - 1 LOVD
+?/. 7 c.640G>A r.(?) p.(Gly214Arg) - Paternal (confirmed) - likely pathogenic (recessive) g.76867955G>A - c.640G>A p.Gly214Arg - MYO7A_000118 - PubMed: Khateb 2020 - - Germline - - - - - DNA ? - - retinal disease CIC00309 PubMed: Khateb 2020 Simplex case M - - - - - - - 1 LOVD
+?/. 7 c.640G>A r.(?) p.(Gly214Arg) - Parent #2 - likely pathogenic (recessive) g.76867955G>A - c.640G>A - MYO7A_000118 - PubMed: Khateb 2020 - - Germline - - - - - DNA ? - - retinal disease 1746244 PubMed: Khateb 2020 Simplex case M - - - - - - - 1 LOVD
+/. 7 c.640G>A r.(?) p.(Gly214Arg) - Parent #1 - pathogenic g.76867955G>A - c.640G>A - MYO7A_000118 - PubMed: Galbis-Martinez-2021 - - Germline - - - - - DNA ? - - retinal disease - PubMed: Galbis-Martinez-2021 - - - - - - - - - 8 LOVD
+/. 7 c.640G>A r.(?) p.(Gly214Arg) - Parent #1 - pathogenic g.76867955G>A - c.640G>A - MYO7A_000118 - PubMed: Galbis-Martinez-2021 - - Germline - - - - - DNA ? - - retinal disease - PubMed: Galbis-Martinez-2021 - - - - - - - - - 4 LOVD
+/. 7 c.640G>A r.(?) p.(Gly214Arg) - Parent #1 - pathogenic g.76867955G>A - c.640G>A - MYO7A_000118 - PubMed: Galbis-Martinez-2021 - - Germline - - - - - DNA ? - - retinal disease - PubMed: Galbis-Martinez-2021 - - - - - - - - - 4 LOVD
+/. 7 c.640G>A r.(?) p.(Gly214Arg) - Both (homozygous) - pathogenic g.76867955G>A - c.640G>A - MYO7A_000118 - PubMed: Galbis-Martinez-2021 - - Germline - - - - - DNA ? - - retinal disease - PubMed: Galbis-Martinez-2021 - - - - - - - - - 4 LOVD
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