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.

13 entries on 1 page. Showing entries 1 - 13.
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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     

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Disease     

ID_report     

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Owner     
+?/? 11 c.1190C>A r.(?) p.(Ala397Asp) Motor domain (1-729) Unknown ACMG VUS g.76871318C>A g.77160272C>A - - MYO7A_000005 Heterozygous PubMed: Adato 1997; USMA-USMA missense analysis USMA-missense variant in MSV3d - - Germline - 1/200 controls - - - DNA SEQ - - USH1B ? PubMed: Adato 1997 Proband M - Bulgaria - - - - - 1 Anne-Françoise Roux
+?/? 11 c.1190C>A r.(?) p.(Ala397Asp) Motor domain (1-729) Unknown ACMG VUS g.76871318C>A g.77160272C>A - - MYO7A_000005 Heterozygous PubMed: Adato 1997; USMA-USMA missense analysis USMA-missense variant in MSV3d - - Germline - 1/200 controls - - - DNA SEQ - - USH1B ? PubMed: Adato 1997 Relative M - Bulgaria - - - - - 1 Anne-Françoise Roux
+?/? 11 c.1190C>A r.(?) p.(Ala397Asp) Motor domain (1-729) Paternal (inferred) ACMG VUS g.76871318C>A g.77160272C>A - - MYO7A_000005 Homozygous PubMed: Adato 1997; USMA-USMA missense analysis USMA-missense variant in MSV3d - - Germline - 1/200 controls - - - DNA SEQ - - USH1B ? PubMed: Adato 1997 Proband - - Iran - - - - - 1 Anne-Françoise Roux
+?/? 11 c.1190C>A r.(?) p.(Ala397Asp) Motor domain (1-729) Maternal (inferred) ACMG VUS g.76871318C>A g.77160272C>A - - MYO7A_000005 Homozygous PubMed: Adato 1997; USMA-USMA missense analysis USMA-missense variant in MSV3d - - Germline - 1/200 controls - - - DNA SEQ - - USH1B ? PubMed: Adato 1997 Proband - - Iran - - - - - 1 Anne-Françoise Roux
+?/? 11 c.1190C>A r.(?) p.(Ala397Asp) Motor domain (1-729) Paternal (inferred) ACMG VUS g.76871318C>A g.77160272C>A - - MYO7A_000005 Homozygous PubMed: Adato 1997; USMA-USMA missense analysis USMA-missense variant in MSV3d - - Germline - 1/200 controls - - - DNA SEQ - - USH1B ? PubMed: Adato 1997 Relative - - Iran - - - - - 1 Anne-Françoise Roux
+?/- 11 c.1190C>A r.(?) p.(Ala397Asp) Motor domain (1-729) Maternal (inferred) ACMG VUS g.76871318C>A g.77160272C>A - - MYO7A_000005 Homozygous PubMed: Adato 1997; USMA-USMA missense analysis USMA-missense variant in MSV3d - - Germline - 1/200 controls - - - DNA SEQ - - USH1B ? PubMed: Adato 1997 Relative - - Iran - - - - - 1 Anne-Françoise Roux
+?/? 11 c.1190C>A r.(?) p.(Ala397Asp) Motor domain (1-729) Parent #2 ACMG VUS g.76871318C>A g.77160272C>A - - MYO7A_000005 Heterozygous PubMed: Espinos 1998; USMA-USMA missense analysis USMA-missense variant in MSV3d - - Germline - 0/66 controls - - - DNA SEQ - - USH1B ? PubMed: Espinos 1998 Proband M - Spain - - - - - 1 Jose Maria Millan
+?/? 11 c.1190C>A r.(?) p.(Ala397Asp) Motor domain (1-729) Parent #2 ACMG VUS g.76871318C>A g.77160272C>A - - MYO7A_000005 Heterozygous PubMed: Jaijo 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - - Germline - 0/66 controls - - - DNA minigene, SEQ - - USH1B ? PubMed: Jaijo 2006 Relative F - Spain - - - - - 1 Jose Maria Millan
+/. - c.1190C>A r.(?) p.(Ala397Asp) - Both (homozygous) - pathogenic (recessive) g.76871318C>A g.77160272C>A - - MYO7A_000005 - PubMed: Fuster-Garcia 2018 - - Germline - - - - - DNA arraySEQ - - retinal disease RP689 PubMed: Fuster-Garcia 2018 analysis 77 USH patients - - Spain - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.1190C>A r.(?) p.(Ala397Asp) - Unknown - likely pathogenic g.76871318C>A - - - MYO7A_000005 - - - rs1555067667 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.1190C>A r.(?) p.(Ala397Asp) - Parent #1 - pathogenic g.76871318C>A - c.1190C>A - MYO7A_000005 - PubMed: Galbis-Martinez-2021 - - Germline - - - - - DNA ? - - retinal disease - PubMed: Galbis-Martinez-2021 - - - - - - - - - 8 LOVD
+/. 11 c.1190C>A r.(?) p.(Ala397Asp) - Both (homozygous) - pathogenic g.76871318C>A - c.1190C>A - MYO7A_000005 - PubMed: Galbis-Martinez-2021 - - Germline - - - - - DNA ? - - retinal disease - PubMed: Galbis-Martinez-2021 - - - - - - - - - 4 LOVD
+?/. - c.1190C>A r.(?) p.(Ala397Asp) - Unknown - likely pathogenic g.76871318C>A - - - MYO7A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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