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.

49 entries on 1 page. Showing entries 1 - 49.
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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     

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Owner     
+/+ 44 c.6025del r.(?) p.(Ala2009Profs*32) FERM 2 (1902-2205) Unknown - pathogenic g.76919822del g.77208777del - - MYO7A_000104 Heterozygous PubMed: Le Quesne Stabej 2012 - - Germline - 0/96 controls -EaeI;-CviKI_1;-HaeIII;-NcoI;-StyI;-PhoI; - - DNA SEQ - - USH1 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 44 c.6025del r.(?) p.(Ala2009Profs*32) FERM 2 (1902-2205) Parent #1 - pathogenic g.76919822del g.77208777del 6025delG - MYO7A_000104 Heterozygous PubMed: Roux 2006 - - Germline - - -EaeI;-CviKI_1;-HaeIII;-NcoI;-StyI;-PhoI; - - DNA minigene, SEQ - - USH1B ? PubMed: Roux 2006 Proband F - France - - - - - 1 Anne-Françoise Roux
+/+ 44 c.6025del r.(?) p.(Ala2009Profs*32) FERM 2 (1902-2205) Parent #1 - pathogenic g.76919822del g.77208777del 6025delG - MYO7A_000104 Heterozygous PubMed: Roux 2011 - - Germline - - -EaeI;-CviKI_1;-HaeIII;-NcoI;-StyI;-PhoI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband F - France - - - - - 1 Anne-Françoise Roux
+/+ 44 c.6025del r.(?) p.(Ala2009Profs*32) FERM 2 (1902-2205) Unknown - pathogenic g.76919822del g.77208777del 6025delG - MYO7A_000104 Heterozygous PubMed: Roux 2011 - - Germline - - -EaeI;-CviKI_1;-HaeIII;-NcoI;-StyI;-PhoI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband F - France - - - - - 1 Anne-Françoise Roux
+/+ 44 c.6025del r.(?) p.(Ala2009Profs*32) FERM 2 (1902-2205) Unknown - pathogenic g.76919822del g.77208777del 6025delG - MYO7A_000104 Heterozygous PubMed: Maubaret 2005 - - Germline - 0/100 controls -EaeI;-CviKI_1;-HaeIII;-NcoI;-StyI;-PhoI; - - DNA SEQ - - USH1B ? PubMed: Maubaret 2005 Proband - - France - - - - - 1 Anne-Françoise Roux
+/+ 44 c.6025del r.(?) p.(Ala2009Profs*32) FERM 2 (1902-2205) Paternal (inferred) - pathogenic g.76919822del g.77208777del 6025delG - MYO7A_000104 Homozygous PubMed: Gerber 2006 - - Germline - - -EaeI;-CviKI_1;-HaeIII;-NcoI;-StyI;-PhoI; - - DNA SEQ - - USH1B ? PubMed: Gerber 2006 Proband - - France - - - - - 1 Anne-Françoise Roux
+/+ 44 c.6025del r.(?) p.(Ala2009Profs*32) FERM 2 (1902-2205) Maternal (inferred) - pathogenic g.76919822del g.77208777del 6025delG - MYO7A_000104 Homozygous PubMed: Gerber 2006 - - Germline - - -EaeI;-CviKI_1;-HaeIII;-NcoI;-StyI;-PhoI; - - DNA SEQ - - USH1B ? PubMed: Gerber 2006 Proband - - France - - - - - 1 Anne-Françoise Roux
+/+ 44 c.6025del r.(?) p.(Ala2009Profs*32) FERM 2 (1902-2205) Parent #1 - pathogenic g.76919822del g.77208777del 6025delG - MYO7A_000104 Heterozygous PubMed: Gerber 2006 - - Germline - - -EaeI;-CviKI_1;-HaeIII;-NcoI;-StyI;-PhoI; - - DNA SEQ - - USH1B ? PubMed: Gerber 2006 Proband - - France - - - - - 1 Anne-Françoise Roux
+/+ 44 c.6025del r.(?) p.(Ala2009Profs*32) FERM 2 (1902-2205) Unknown - pathogenic g.76919822del g.77208777del 6025delG - MYO7A_000104 Heterozygous PubMed: Najera 2002 - - Germline - - -EaeI;-CviKI_1;-HaeIII;-NcoI;-StyI;-PhoI; - - DNA SEQ - - USH1B ? PubMed: Najera 2002 Proband - - Spain - - - - - 1 Jose Maria Millan
+/+ 44 c.6025del r.(?) p.(Ala2009Profs*32) FERM 2 (1902-2205) Parent #2 - pathogenic g.76919822del g.77208777del 6025delG - MYO7A_000104 Heterozygous PubMed: Jaijo 2007 - - Germline - - -EaeI;-CviKI_1;-HaeIII;-NcoI;-StyI;-PhoI; - - DNA SEQ - - USH1B ? PubMed: Jaijo 2007 Proband F - Italy - - - - - 1 Jose Maria Millan
+/+ 44 c.6025del r.(?) p.(Ala2009Profs*32) FERM 2 (1902-2205) Parent #1 - pathogenic g.76919822del g.77208777del 6025delG - MYO7A_000104 Heterozygous PubMed: Jaijo 2010 - - Germline - - -EaeI;-CviKI_1;-HaeIII;-NcoI;-StyI;-PhoI; - - DNA SEQ - - USH1B ? PubMed: Jaijo 2010 Proband - - Spain - - - - - 1 Jose Maria Millan
+/+ 44 c.6025del r.(?) p.(Ala2009Profs*32) FERM 2 (1902-2205) Paternal (inferred) - pathogenic g.76919822del g.77208777del 6025delG - MYO7A_000104 Homozygous PubMed: Najera 2002 - - Germline - - -EaeI;-CviKI_1;-HaeIII;-NcoI;-StyI;-PhoI; - - DNA SEQ - - USH1B ? PubMed: Najera 2002 Proband F - Spain - - - - - 1 Jose Maria Millan
+/+ 44 c.6025del r.(?) p.(Ala2009Profs*32) FERM 2 (1902-2205) Maternal (inferred) - pathogenic g.76919822del g.77208777del 6025delG - MYO7A_000104 Homozygous PubMed: Najera 2002 - - Germline - - -EaeI;-CviKI_1;-HaeIII;-NcoI;-StyI;-PhoI; - - DNA SEQ - - USH1B ? PubMed: Najera 2002 Proband F - Spain - - - - - 1 Jose Maria Millan
+/+ 44 c.6025del r.(?) p.(Ala2009Profs*32) FERM 2 (1902-2205) Parent #2 - pathogenic g.76919822del g.77208777del 6025delG - MYO7A_000104 Heterozygous PubMed: Bharadwaj 2000 - - Germline - - -EaeI;-CviKI_1;-HaeIII;-NcoI;-StyI;-PhoI; - - DNA SEQ - - USH1B ? PubMed: Bharadwaj 2000 Proband - - United Kingdom (Great Britain) - - - - - 1 Anne-Françoise Roux
+/+ 44 c.6025del r.(?) p.(Ala2009Profs*32) FERM 2 (1902-2205) Unknown - pathogenic g.76919822del g.77208777del 6025delG - MYO7A_000104 Heterozygous PubMed: Bharadwaj 2000 - - Germline - - -EaeI;-CviKI_1;-HaeIII;-NcoI;-StyI;-PhoI; - - DNA SEQ - - USH1B ? PubMed: Bharadwaj 2000 Proband - - United Kingdom (Great Britain) - - - - - 1 Anne-Françoise Roux
+/+ 44 c.6025del r.(?) p.(Ala2009Profs*32) FERM 2 (1902-2205) Unknown - pathogenic g.76919822del g.77208777del 6025delG - MYO7A_000104 Heterozygous PubMed: Bharadwaj 2000 - - Germline - - -EaeI;-CviKI_1;-HaeIII;-NcoI;-StyI;-PhoI; - - DNA SEQ - - USH1B ? PubMed: Bharadwaj 2000 Proband - - United Kingdom (Great Britain) - - - - - 1 Anne-Françoise Roux
+/+ 44 c.6025del r.(?) p.(Ala2009Profs*32) FERM 2 (1902-2205) Unknown - pathogenic g.76919822del g.77208777del 6025delG - MYO7A_000104 Heterozygous PubMed: Roux 2011 - - Germline - - -EaeI;-CviKI_1;-HaeIII;-NcoI;-StyI;-PhoI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband M - - - - - - - 1 Anne-Françoise Roux
+/+ 44 c.6025del r.(?) p.(Ala2009Profs*32) FERM 2 (1902-2205) Paternal (inferred) - pathogenic g.76919822del g.77208777del 6025delG - MYO7A_000104 Homozygous PubMed: Roux 2011 - - Germline - - -EaeI;-CviKI_1;-HaeIII;-NcoI;-StyI;-PhoI; - - DNA SEQ - - ? ? PubMed: Roux 2011 Proband M - - - - - - - 1 Anne-Françoise Roux
+/+ 44 c.6025del r.(?) p.(Ala2009Profs*32) FERM 2 (1902-2205) Maternal (inferred) - pathogenic g.76919822del g.77208777del 6025delG - MYO7A_000104 Homozygous PubMed: Roux 2011 - - Germline - - -EaeI;-CviKI_1;-HaeIII;-NcoI;-StyI;-PhoI; - - DNA SEQ - - ? ? PubMed: Roux 2011 Proband M - - - - - - - 1 Anne-Françoise Roux
+/+ 44 c.6025del r.(?) p.(Ala2009Profs*32) FERM 2 (1902-2205) Maternal (confirmed) - pathogenic g.76919822del g.77208777del 6025delG - MYO7A_000104 Heterozygous PubMed: Roux 2011 - - Germline - - -EaeI;-CviKI_1;-HaeIII;-NcoI;-StyI;-PhoI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband M - France - - - - - 1 Anne-Françoise Roux
+/+ 44 c.6025del r.(?) p.(Ala2009Profs*32) FERM 2 (1902-2205) Parent #2 - pathogenic g.76919822del g.77208777del 6025delG - MYO7A_000104 Heterozygous PubMed: Bonnet 2011 - - Germline - - -EaeI;-CviKI_1;-HaeIII;-NcoI;-StyI;-PhoI; - - DNA SEQ - - USH1B ? PubMed: Bonnet 2011 Proband - - - - - - - - 1 Anne-Françoise Roux
+/+ 44 c.6025del r.(?) p.(Ala2009Profs*32) FERM2 (1902-2205) Unknown - pathogenic g.76919822del g.77208777del 6025delG - MYO7A_000104 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1B ? PubMed: Bonnet 2016 Proband M - Germany - - - - - 1 Crystel Bonnet
+/+ 44 c.6025del r.(?) p.(Ala2009Profs*32) FERM2 (1902-2205) Parent #1 - pathogenic g.76919822del g.77208777del 6025delG - MYO7A_000104 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1B ? PubMed: Bonnet 2016 Proband F - France - - - - - 1 Crystel Bonnet
+/+ 44 c.6025del r.(?) p.(Ala2009Profs*32) FERM2 (1902-2205) Parent #1 - pathogenic g.76919822del g.77208777del 6025delG - MYO7A_000104 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1B ? PubMed: Bonnet 2016 Proband F - Spain - - - - - 1 Crystel Bonnet
+/+ 44 c.6025del r.(?) p.(Ala2009Profs*32) FERM2 (1902-2205) Parent #1 - pathogenic g.76919822del g.77208777del 6025delG - MYO7A_000104 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1B ? PubMed: Bonnet 2016 Proband M - Spain - - - - - 1 Crystel Bonnet
+?/. - c.6025del r.(?) p.(Ala2009Profs*32) - Unknown - likely pathogenic g.76919822del g.77208777del 6024delG - MYO7A_000104 no variant 2nd chromosome PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 530 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+/. 44 c.6025del r.(?) p.(Ala2009Profs*32) - Parent #2 - pathogenic (recessive) g.76919822del g.77208777del 6025delG - MYO7A_000104 - PubMed: Cremers 2007 - - Germline - - - - - DNA PE - - retinal disease USH1-28 PubMed: Cremers 2007 - F no Denmark - - - - - 1 LOVD
+?/. - c.6025del r.(?) p.(Ala2009Profs*32) - Unknown - likely pathogenic g.76919822del g.77208777del 6025delG - MYO7A_000104 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 10002008 PubMed: Ellingford 2016 familial segregation analysis requested - - - - - - - - 1 LOVD
+/. - c.6025del r.(?) p.(Ala2009Profs*32) - Parent #2 - pathogenic g.76919822del g.77208777del 6025delG - MYO7A_000104 - PubMed: Neuhaus 2017 - - Germline - - - - - DNA SEQ-NG - gene panel USH Pat13 PubMed: Neuhaus 2017 - - no Germany - - - - - 1 LOVD
+?/. 44 c.6025del r.(?) p.(Met2010Trpfs*33) - Unknown - likely pathogenic g.76919822del - c.6025delG - MYO7A_000104 - PubMed: Wafa-2021 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Wafa 2021 - - - United States - - - - - 1 LOVD
+/. - c.6025del r.(?) p.(Ala2009ProfsTer32) - Parent #1 - pathogenic g.76919822del g.77208777del c.6025delG - MYO7A_000104 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WGS retinal disease 10002008 PubMed: Ellingford 2016 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. - c.6025del r.(?) p.(Ala2009Profs*32) - Unknown - likely pathogenic g.76919822del g.77208777del MYO7A c.6025delG, p.Ala2009fs - MYO7A_000104 only novel variants described in detail in the paper; original cohort contained over 750 patients from over 520 pedigrees, PubMed: Dockery 2017 - - Germline yes - - - - DNA SEQ-NG-I blood panel of 254 genes implicated in retinopathies retinal disease 6 PubMed: Dockery 2017 no patient numbers in the paper, consecutive numbers given ? - Ireland - - - - - 1 LOVD
+?/. - c.6025del r.(?) p.(Ala2009Profs*32) - Unknown - likely pathogenic g.76919822del g.77208777del MYO7A , p.Ala2009fs - MYO7A_000104 only novel variants described in detail in the paper; original cohort contained over 750 patients from over 520 pedigrees, no c.DNA annotation in paper for this variant, c. extrapolated from protein (most common variant annotated in ClinVar) PubMed: Dockery 2017 - - Germline yes - - - - DNA SEQ-NG-I blood panel of 254 genes implicated in retinopathies retinal disease 12 PubMed: Dockery 2017 no patient numbers in the paper, consecutive numbers given ? - Ireland - - - - - 1 LOVD
+/. 44 c.6025del r.(?) p.(Ala2009Profs*32) - Paternal (confirmed) - pathogenic (recessive) g.76919822del - c.6025delG(p.Ala2009Profs*32) - MYO7A_000104 - PubMed: Bakhchane 2017 - - Germline yes 0/100 healthy controls - - - DNA SEQ-NG, SEQ blood - retinal disease SF01.02 PubMed: Bakhchane 2017 - F - - Moroccan - - - - 1 LOVD
+/. 44 c.6025del r.(?) p.(Ala2009Profs*32) - Paternal (confirmed) - pathogenic (recessive) g.76919822del - c.6025delG(p.Ala2009Profs*32) - MYO7A_000104 - PubMed: Bakhchane 2017 - - Germline yes 0/100 healthy controls - - - DNA SEQ blood - retinal disease SF01:01,03 PubMed: Bakhchane 2017 - M - - Moroccan - - - - 2 LOVD
+?/. 44 c.6025del r.(?) p.(Ala2009Profs*32) - Parent #1 - likely pathogenic (recessive) g.76919822del - c.6025del p.Ala2009Profs*32 - MYO7A_000104 - PubMed: Khateb 2020 - - Germline - - - - - DNA ? - - retinal disease CIC7493 PubMed: Khateb 2020 multiple affected subjects F - - French - - - - 1 LOVD
+?/. 44 c.6025del r.(?) p.(Ala2009Profs*32) - Parent #1 - likely pathogenic (recessive) g.76919822del - c.6025del p.Ala2009Profs*32 - MYO7A_000104 - PubMed: Khateb 2020 - - Germline - - - - - DNA ? - - retinal disease CIC08086 PubMed: Khateb 2020 multiple affected subjects M - - French - - - - 1 LOVD
+?/. 44 c.6025del r.(?) p.(Ala2009Profs*32) - Parent #1 - likely pathogenic (recessive) g.76919822del - c.6025del p.Ala2009Profs*32 - MYO7A_000104 - PubMed: Khateb 2020 - - Germline - - - - - DNA ? - - retinal disease CIC08100 PubMed: Khateb 2020 multiple affected subjects F - - French - - - - 1 LOVD
+?/. 44 c.6025del r.(?) p.(Ala2009Profs*32) - Parent #1 - likely pathogenic (recessive) g.76919822del - c.6025del p.Ala2009Profs*32 - MYO7A_000104 - PubMed: Khateb 2020 - - Germline - - - - - DNA ? - - retinal disease CIC07979 PubMed: Khateb 2020 multiple affected subjects F - - French - - - - 1 LOVD
+?/. 44 c.6025del r.(?) p.(Ala2009Profs*32) - Parent #2 - likely pathogenic (recessive) g.76919822del - c.6025del - MYO7A_000104 - PubMed: Khateb 2020 - - Germline - - - - - DNA ? - - retinal disease 1617688 PubMed: Khateb 2020 simplex case F - - French - - - - 1 LOVD
+?/. 44 c.6025del r.(?) p.(Ala2009Profs*32) - Parent #2 - likely pathogenic (recessive) g.76919822del - c.6025del - MYO7A_000104 - PubMed: Khateb 2020 - - Germline - - - - - DNA ? - - retinal disease CIC04820 PubMed: Khateb 2020 simplex case M - - French - - - - 1 LOVD
+/. 44 c.6025del r.(?) p.(Met2010Trpfs*33) - Both (homozygous) - pathogenic g.76919822del - c.6025delG - MYO7A_000104 - PubMed: Galbis-Martinez-2021 - - Germline - - - - - DNA ? - - retinal disease - PubMed: Galbis-Martinez-2021 - - - - - - - - - 4 LOVD
+/. 44 c.6025del r.(?) p.(Met2010Trpfs*33) - Parent #2 - pathogenic g.76919822del - c.6025delG - MYO7A_000104 - PubMed: Galbis-Martinez-2021 - - Germline - - - - - DNA ? - - retinal disease - PubMed: Galbis-Martinez-2021 - - - - - - - - - 4 LOVD
+/. 44 c.6025del r.(?) p.(Met2010Trpfs*33) - Both (homozygous) - pathogenic g.76919822del - c.6025delG - MYO7A_000104 - PubMed: Galbis-Martinez-2021 - - Germline - - - - - DNA ? - - retinal disease - PubMed: Galbis-Martinez-2021 - - - - - - - - - 8 LOVD
+/. - c.6025delG r.(?) p.(Ala2009ProfsTer32) - Unknown ACMG pathogenic g.76919822del - - - MYO7A_000104 - PubMed: Mansard et al, 2021 - rs397516326 Germline - - - - - DNA SEQ-NG, SEQ - - USH1 - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+/. - c.6025delG r.(?) p.(Ala2009ProfsTer32) - Paternal (confirmed) ACMG pathogenic g.76919822del - - - MYO7A_000104 - PubMed: Mansard et al, 2021 - rs397516326 Germline - - - - - DNA SEQ-NG, SEQ - - USH1 - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+/. - c.6025delG r.(?) p.(Ala2009ProfsTer32) - Both (homozygous) ACMG pathogenic g.76919822del - - - MYO7A_000104 - PubMed: Mansard et al, 2021 - rs397516326 Germline - - - - - DNA SEQ-NG, SEQ - - USH1 - PubMed: Mansard et al, 2021 - M - - - - - - - 1 Anne-Françoise Roux
+/. - c.6025delG r.(?) p.(Ala2009ProfsTer32) - Paternal (confirmed) ACMG pathogenic g.76919822del - - - MYO7A_000104 - PubMed: Mansard et al, 2021 - - Germline - - - - - DNA SEQ-NG, SEQ - - USH1 - PubMed: Mansard et al, 2021 - M - - - - - - - 1 Anne-Françoise Roux
+/. - c.6025delG r.(?) p.(Ala2009Profs*32) - Both (homozygous) ACMG pathogenic g.76919822del g.77208777del MYO7A c.6025delG, p.(Ala2009Profs*32) - MYO7A_000104 homozygous PubMed: Dineiro 2020 - - Germline ? - - - - DNA SEQ-NG-I, SEQ blood, saliva targeted sequencing with 1 of 4 panels of OFTALMOgenics probes retinal disease OFTALMO.017 PubMed: Dineiro 2020 - ? - Spain - - - - - 1 LOVD
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