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.

34 entries on 1 page. Showing entries 1 - 34.
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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.3508G>A r.(?) p.(Glu1170Lys) - Unknown - pathogenic g.76900393G>A g.77189348G>A - - MYO7A_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 28 c.3508G>A r.(?) p.(Glu1170Lys) MyTH4 1 (1017-1253) Parent #2 - pathogenic g.76900393G>A g.77189348G>A - - MYO7A_000023 Heterozygous PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033214 Germline - 0/352 controls none - - DNA SEQ - - USH1B ? PubMed: Roux 2006 Proband F - France - - - - - 1 Anne-Françoise Roux
+/+ 28 c.3508G>A r.(?) p.(Glu1170Lys) MyTH4 1 (1017-1253) Parent #1 - pathogenic g.76900393G>A g.77189348G>A - - MYO7A_000023 Heterozygous PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033214 Germline - 0/352 controls none - - DNA SEQ - - USH1B ? PubMed: Roux 2006 Proband F - France - - - - - 1 Anne-Françoise Roux
+/+ 28 c.3508G>A r.(?) p.(Glu1170Lys) MyTH4 1 (1017-1253) Paternal (inferred) - pathogenic g.76900393G>A g.77189348G>A - - MYO7A_000023 Homozygous USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033214 Germline - - none - - DNA SEQ - - USH1B ? - Proband M - France - - - - - 1 Anne-Françoise Roux
+/+ 28 c.3508G>A r.(?) p.(Glu1170Lys) MyTH4 1 (1017-1253) Maternal (inferred) - pathogenic g.76900393G>A g.77189348G>A - - MYO7A_000023 Homozygous USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033214 Germline - - none - - DNA SEQ - - USH1B ? - Proband M - France - - - - - 1 Anne-Françoise Roux
+/+ 28 c.3508G>A r.(?) p.(Glu1170Lys) MyTH4 1 (1017-1253) Parent #1 - pathogenic g.76900393G>A g.77189348G>A - - MYO7A_000023 Heterozygous PubMed: Pennings 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033214 Germline - - none - - DNA SEQ - - USH1B ? PubMed: Pennings 2006 Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 28 c.3508G>A r.(?) p.(Glu1170Lys) MyTH4 1 (1017-1253) Parent #1 - pathogenic g.76900393G>A g.77189348G>A - - MYO7A_000023 Heterozygous PubMed: Pennings 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033214 Germline - - none - - DNA SEQ - - USH1B ? PubMed: Pennings 2006 Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 28 c.3508G>A r.(?) p.(Glu1170Lys) MyTH4 1 (1017-1253) Unknown - pathogenic g.76900393G>A g.77189348G>A - - MYO7A_000023 Heterozygous PubMed: Pennings 2004; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033214 Germline - - none - - DNA SEQ - - USH1B ? PubMed: Pennings 2004 Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 28 c.3508G>A r.(?) p.(Glu1170Lys) MyTH4 1 (1017-1253) Parent #1 - pathogenic g.76900393G>A g.77189348G>A - - MYO7A_000023 Heterozygous PubMed: Pennings 2004; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033214 Germline - - none - - DNA SEQ - - USH1B ? PubMed: Pennings 2004 Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 28 c.3508G>A r.(?) p.(Glu1170Lys) MyTH4 1 (1017-1253) Paternal (inferred) - pathogenic g.76900393G>A g.77189348G>A - - MYO7A_000023 Homozygous PubMed: Pennings 2004; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033214 Germline - - none - - DNA SEQ - - USH1B ? PubMed: Pennings 2004 Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 28 c.3508G>A r.(?) p.(Glu1170Lys) MyTH4 1 (1017-1253) Maternal (inferred) - pathogenic g.76900393G>A g.77189348G>A - - MYO7A_000023 Homozygous PubMed: Pennings 2004; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033214 Germline - - none - - DNA SEQ - - USH1B ? PubMed: Pennings 2004 Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 28 c.3508G>A r.(?) p.(Glu1170Lys) MyTH4 1 (1017-1253) Parent #1 - pathogenic g.76900393G>A g.77189348G>A - - MYO7A_000023 Heterozygous PubMed: Pennings 2004; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033214 Germline - - none - - DNA SEQ - - USH1B ? PubMed: Pennings 2004 Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 28 c.3508G>A r.(?) p.(Glu1170Lys) MyTH4 1 (1017-1253) Parent #1 - pathogenic g.76900393G>A g.77189348G>A - - MYO7A_000023 Heterozygous PubMed: Pennings 2004; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033214 Germline - - none - - DNA SEQ - - USH1B ? PubMed: Pennings 2004 Relative - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 28 c.3508G>A r.(?) p.(Glu1170Lys) MyTH4 1 (1017-1253) Parent #2 - pathogenic g.76900393G>A g.77189348G>A - - MYO7A_000023 Heterozygous PubMed: Cuevas 1999; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033214 Germline - 0/68 controls none - - DNA minigene, RT-PCR, SEQ - - USH1B ? PubMed: Cuevas 1999 Proband - Minigene and Nasal cell studies in Aparisi et al., 2013 M - Spain - - - - - 1 Jose Maria Millan
+/+ 28 c.3508G>A r.(?) p.(Glu1170Lys) MyTH4 1 (1017-1253) Parent #2 - pathogenic g.76900393G>A g.77189348G>A - - MYO7A_000023 Heterozygous PubMed: Cuevas 1999; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033214 Germline - 0/68 controls none - - DNA SEQ - - USH1B ? PubMed: Cuevas 1999 Relative F - Spain - - - - - 1 Jose Maria Millan
+/+ 28 c.3508G>A r.(?) p.(Glu1170Lys) MyTH4 1 (1017-1253) Unknown - pathogenic g.76900393G>A g.77189348G>A - - MYO7A_000023 Heterozygous PubMed: Najera 2002; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033214 Germline - 0/200 controls none - - DNA SEQ - - USH1B ? PubMed: Najera 2002 Proband M - Spain - - - - - 1 Jose Maria Millan
+/+ 28 c.3508G>A r.(?) p.(Glu1170Lys) MyTH4 1 (1017-1253) Paternal (inferred) - pathogenic g.76900393G>A g.77189348G>A - - MYO7A_000023 Homozygous PubMed: Riazuddin 2008; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033214 Germline - - none - - DNA SEQ - - USH1B ? PubMed: Riazuddin 2008 Proband - - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 28 c.3508G>A r.(?) p.(Glu1170Lys) MyTH4 1 (1017-1253) Maternal (inferred) - pathogenic g.76900393G>A g.77189348G>A - - MYO7A_000023 Homozygous PubMed: Riazuddin 2008; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033214 Germline - - none - - DNA SEQ - - USH1B ? PubMed: Riazuddin 2008 Proband - - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 28 c.3508G>A r.(?) p.(Glu1170Lys) MyTH4 1 (1017-1253) Paternal (inferred) - pathogenic g.76900393G>A g.77189348G>A - - MYO7A_000023 Homozygous PubMed: Riazuddin 2008; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033214 Germline - - none - - DNA SEQ - - USH1B ? PubMed: Riazuddin 2008 Proband - - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 28 c.3508G>A r.(?) p.(Glu1170Lys) MyTH4 1 (1017-1253) Maternal (inferred) - pathogenic g.76900393G>A g.77189348G>A - - MYO7A_000023 Homozygous PubMed: Riazuddin 2008; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033214 Germline - - none - - DNA SEQ - - USH1B ? PubMed: Riazuddin 2008 Proband - - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 28 c.3508G>A r.(?) p.(Glu1170Lys) MyTH4 1 (1017-1253) Paternal (confirmed) - pathogenic g.76900393G>A g.77189348G>A - - MYO7A_000023 Heterozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033214 Germline - 0/352 controls none - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband M - France - - - - - 1 Anne-Françoise Roux
+/+ 28 c.3508G>A r.(?) p.(Glu1170Lys) MyTH4 1 (1017-1253) Paternal (inferred) - pathogenic g.76900393G>A g.77189348G>A - - MYO7A_000023 Homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033214 Germline - - none - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband F - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 28 c.3508G>A r.(?) p.(Glu1170Lys) MyTH4 1 (1017-1253) Maternal (inferred) - pathogenic g.76900393G>A g.77189348G>A - - MYO7A_000023 Homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033214 Germline - - none - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband F - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 28 c.3508G>A r.(?) p.(Glu1170Lys) MyTH4 1 (1017-1253) Unknown - pathogenic g.76900393G>A g.77189348G>A - - MYO7A_000023 Heterozygous PubMed: Bujakowska 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033214 Germline - - none - - DNA SEQ, SEQ-NG-S - - USH1B ? PubMed: Bujakowska 2014 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 28 c.3508G>A r.(?) p.(Glu1170Lys) - Paternal (confirmed) - pathogenic g.76900393G>A g.77189348G>A - - MYO7A_000023 Homozygous; mutation PubMed: Bonnet 2016; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033214 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1B ? PubMed: Bonnet 2016 Proband M - Spain - - - - - 1 Crystel Bonnet
+/+ 28 c.3508G>A r.(?) p.(Glu1170Lys) - Maternal (confirmed) - pathogenic g.76900393G>A g.77189348G>A - - MYO7A_000023 Homozygous; mutation PubMed: Bonnet 2016; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033214 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1B ? PubMed: Bonnet 2016 Proband M - Spain - - - - - 1 Crystel Bonnet
+?/. - c.3508G>A r.(?) p.(Glu1170Lys) - Parent #1 - likely pathogenic g.76900393G>A g.77189348G>A - - MYO7A_000023 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs111033214 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.3508G>A r.(?) p.(Glu1170Lys) - Parent #1 - pathogenic g.76900393G>A g.77189348G>A - - MYO7A_000023 no variant 2nd chromosome PubMed: Fuster-Garcia 2018 - - Germline - - - - - DNA arraySEQ - - retinal disease RP2020 PubMed: Fuster-Garcia 2018 analysis 77 USH patients - - Spain - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.3508G>A r.(?) p.(Glu1170Lys) - Parent #1 - likely pathogenic g.76900393G>A g.77189348G>A MYO7A c.3508G>A, p.E1170K - MYO7A_000023 compound heterozygous PubMed: Jauregui 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 141 PubMed: Jauregui 2020 - F - (United States) Hispanic - - - - 1 LOVD
+/. - c.3508G>A r.(?) p.(Glu1170Lys) - Both (homozygous) ACMG pathogenic g.76900393G>A - - - MYO7A_000023 - PubMed: Mansard et al, 2021 - rs111033214 Germline - - - - - DNA SEQ-NG, SEQ - - USH1 - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+?/. 28 c.3508G>A r.(?) p.(Glu1170Lys) - Parent #1 - likely pathogenic (recessive) g.76900393G>A - c.3508G>A - MYO7A_000023 - PubMed: Khateb 2020 - - Germline - - - - - DNA ? - - retinal disease 1027955 PubMed: Khateb 2020 simplex case F - - French - - - - 1 LOVD
+/. 28 c.3508G>A r.(?) p.(Glu1170Lys) - Parent #2 - pathogenic g.76900393G>A - c.3508G>A - MYO7A_000023 - PubMed: Galbis-Martinez-2021 - - Germline - - - - - DNA ? - - retinal disease - PubMed: Galbis-Martinez-2021 - - - - - - - - - 8 LOVD
+/. 28 c.3508G>A r.(?) p.(Glu1170Lys) - Parent #1 - pathogenic g.76900393G>A - c.3508G>A - MYO7A_000023 - PubMed: Galbis-Martinez-2021 - - Germline - - - - - DNA ? - - retinal disease - PubMed: Galbis-Martinez-2021 - - - - - - - - - 4 LOVD
+/. - c.3508G>A r.(?) p.(Glu1170Lys) - Both (homozygous) - pathogenic (recessive) g.76900393G>A g.77189348G>A - - MYO7A_000023 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL PKDF1484 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
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