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.

24 entries on 1 page. Showing entries 1 - 24.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

Allele     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Re-site     

VIP     

Methylation     

Template     

Technique     

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Disease     

ID_report     

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VIP     

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Panel size     

Owner     
-/- 6 c.494C>T r.(?) p.(Thr165Met) Motor domain (1-729);ATP binding site (158-165) Paternal (inferred) - pathogenic g.76867729C>T g.77156683C>T - - MYO7A_000078 Heterozygous; causative PubMed: Rong 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033174 Germline - 0/200 controls - - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Rong 2014 Proband M - China - - - - - 1 Anne-Françoise Roux
-/- 6 c.494C>T r.(?) p.(Thr165Met) Motor domain (1-729);ATP binding site (158-165) Maternal (inferred) - pathogenic g.76867729C>T g.77156683C>T - - MYO7A_000078 Heterozygous; causative PubMed: Rong 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033174 Germline - 0/200 controls - - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Rong 2014 Proband M - China - - - - - 1 Anne-Françoise Roux
+/+ 6 c.494C>T r.(?) p.(Thr165Met) Motor domain (1-729);ATP binding site (158-165) Parent #2 - pathogenic g.76867729C>T g.77156683C>T - - MYO7A_000078 Heterozygous PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033174 Germline - 0/664 controls - - - DNA SEQ - - USH1B ? PubMed: Roux 2006 Proband M - France - - - - - 1 Anne-Françoise Roux
+/+ 6 c.494C>T r.(?) p.(Thr165Met) Motor domain (1-729);ATP binding site (158-165) Paternal (inferred) - pathogenic g.76867729C>T g.77156683C>T - - MYO7A_000078 Homozygous USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033174 Germline - 0/352 controls - - - DNA SEQ - - USH1B ? - Proband M - France - - - - - 1 Anne-Françoise Roux
+/+ 6 c.494C>T r.(?) p.(Thr165Met) Motor domain (1-729);ATP binding site (158-165) Maternal (inferred) - pathogenic g.76867729C>T g.77156683C>T - - MYO7A_000078 Homozygous USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033174 Germline - 0/352 controls - - - DNA SEQ - - USH1B ? - Proband M - France - - - - - 1 Anne-Françoise Roux
+/+ 6 c.494C>T r.(?) p.(Thr165Met) Motor domain (1-729);ATP binding site (158-165) Paternal (inferred) - pathogenic g.76867729C>T g.77156683C>T - - MYO7A_000078 Homozygous PubMed: Gerber 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033174 Germline - - - - - DNA SEQ - - USH1B ? PubMed: Gerber 2006 Proband F - France - - - - - 1 Anne-Françoise Roux
+/+ 6 c.494C>T r.(?) p.(Thr165Met) Motor domain (1-729);ATP binding site (158-165) Maternal (inferred) - pathogenic g.76867729C>T g.77156683C>T - - MYO7A_000078 Homozygous PubMed: Gerber 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033174 Germline - - - - - DNA SEQ - - USH1B ? PubMed: Gerber 2006 Proband F - France - - - - - 1 Anne-Françoise Roux
+/+ 6 c.494C>T r.(?) p.(Thr165Met) Motor domain (1-729);ATP binding site (158-165) Unknown - pathogenic g.76867729C>T g.77156683C>T - - MYO7A_000078 Heterozygous PubMed: Ouyang 2005; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033174 Germline - - - - - DNA SEQ - - USH1B ? PubMed: Ouyang 2005 Proband - - United Kingdom (Great Britain) - - - - - 1 Anne-Françoise Roux
+/+ 6 c.494C>T r.(?) p.(Thr165Met) Motor domain (1-729);ATP binding site (158-165) Unknown - pathogenic g.76867729C>T g.77156683C>T - - MYO7A_000078 Heterozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033174 Germline - 0/664 controls - - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband M - France - - - - - 1 Anne-Françoise Roux
+/+ 6 c.494C>T r.(?) p.(Thr165Met) Motor domain (1-729);ATP binding site (158-165) Paternal (inferred) - pathogenic g.76867729C>T g.77156683C>T - - MYO7A_000078 Heterozygous PubMed: Aparisi 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033174 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 ? PubMed: Aparisi 2014 Proband - - Spain - - - - - 1 Anne-Françoise Roux
+/+ 6 c.494C>T r.(?) p.(Thr165Met) Motor domain (1-729);ATP binding site (158-165) Maternal (inferred) - pathogenic g.76867729C>T g.77156683C>T - - MYO7A_000078 Heterozygous PubMed: Aparisi 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033174 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 ? PubMed: Aparisi 2014 Proband - - Spain - - - - - 1 Anne-Françoise Roux
+/+ 6 c.494C>T r.(?) p.(Thr165Met) Motor domain (1-729), ATP binding site (158-165) Unknown - pathogenic g.76867729C>T g.77156683C>T - - MYO7A_000078 Heterozygous; mutation PubMed: Bonnet 2016; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033174 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1B ? PubMed: Bonnet 2016 Proband F - Germany - - - - - 1 Crystel Bonnet
+/+ 6 c.494C>T r.(?) p.(Thr165Met) Motor domain (1-729), ATP binding site (158-165) Unknown - pathogenic g.76867729C>T g.77156683C>T - - MYO7A_000078 Heterozygous; mutation PubMed: Bonnet 2016; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033174 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1B ? PubMed: Bonnet 2016 Proband M - Germany - - - - - 1 Crystel Bonnet
+/+ 6 c.494C>T r.(?) p.(Thr165Met) Motor domain (1-729), ATP binding site (158-165) Parent #2 - pathogenic g.76867729C>T g.77156683C>T - - MYO7A_000078 Heterozygous; mutation PubMed: Bonnet 2016; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033174 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1B ? PubMed: Bonnet 2016 Proband M - France - - - - - 1 Crystel Bonnet
+/+ 6 c.494C>T r.(?) p.(Thr165Met) Motor domain (1-729), ATP binding site (158-165) Unknown - pathogenic g.76867729C>T g.77156683C>T - - MYO7A_000078 Heterozygous; mutation PubMed: Bonnet 2016; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033174 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1B ? PubMed: Bonnet 2016 Proband M - Italy - - - - - 1 Crystel Bonnet
+/. - c.494C>T r.(?) p.(Thr165Met) - Paternal (confirmed) ACMG pathogenic g.76867729C>T - - - MYO7A_000078 - PubMed: Mansard et al, 2021 - rs111033174 Germline - - - - - DNA SEQ-NG, SEQ - - USH1 - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+/. - c.494C>T r.(?) p.(Thr165Met) - Unknown ACMG pathogenic g.76867729C>T - - - MYO7A_000078 - PubMed: Mansard et al, 2021 - rs111033174 Germline - - - - - DNA SEQ-NG, SEQ - - USH1 - PubMed: Mansard et al, 2021 - M - - - - - - - 1 Anne-Françoise Roux
+?/. - c.494C>T r.(?) p.(Thr165Met) - Parent #1 - likely pathogenic g.76867729C>T g.77156683C>T MYO7A, variant 1: c.494C>T/p.T165M, variant 2: c.3610C>A/p.P1204T - MYO7A_000078 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET6 targeted sequencing panel - see paper retinal disease 690 PubMed: Weisschuh 2020 Filing key number: 249, Usher syndrome type 2, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. 6 c.494C>T r.(?) p.(Thr165Met) - Paternal (confirmed) - likely pathogenic (recessive) g.76867729C>T - c.494C>T p.Thr165Met - MYO7A_000078 - PubMed: Khateb 2020 - - Germline - - - - - DNA ? - - retinal disease CIC02640 PubMed: Khateb 2020 simplex case M - - French - - - - 1 LOVD
+/. 6 c.494C>T r.(?) p.(Thr165Met) - Both (homozygous) - pathogenic g.76867729C>T - c.494C>T - MYO7A_000078 - PubMed: Galbis-Martinez-2021 - - Germline - - - - - DNA ? - - retinal disease - PubMed: Galbis-Martinez-2021 - - - - - - - - - 8 LOVD
+/. 6 c.494C>T r.(?) p.(Thr165Met) - Both (homozygous) - pathogenic g.76867729C>T - c.494C>T - MYO7A_000078 - PubMed: Galbis-Martinez-2021 - - Germline - - - - - DNA ? - - retinal disease - PubMed: Galbis-Martinez-2021 - - - - - - - - - 4 LOVD
+/. - c.494C>T r.(?) p.(Thr165Met) - Unknown ACMG pathogenic (recessive) g.76867729C>T g.77156683C>T - - MYO7A_000078 ACMG PP3, PM2, PP5_STRONG PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? USHI-3 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
+/. - c.494C>T r.(?) p.(Thr165Met) - Unknown ACMG pathogenic (recessive) g.76867729C>T g.77156683C>T - - MYO7A_000078 ACMG PP3, PM2, PP5_STRONG PubMed: Weisschuh 2024 43264 - Germline - - - - - DNA SEQ-NG - WGS ? USHI-73 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
+/. - c.494C>T r.(?) p.(Thr165Met) - Unknown ACMG pathogenic (recessive) g.76867729C>T g.77156683C>T - - MYO7A_000078 ACMG PP3, PM2, PP5_STRONG PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? ARRP-489 PubMed: Weisschuh 2024 family, 2 affected F - Germany - - - - - 2 Johan den Dunnen
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