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.

15 entries on 1 page. Showing entries 1 - 15.
Legend   How to query  

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     

Treatment     

Panel size     

Owner     
+?/. 38 c.5227C>T r.(?) p.(Arg1743Trp) - Parent #2 - likely pathogenic g.76914163C>T g.77203118C>T - - MYO7A_000150 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - Germline - - - - - DNA SEQ-NG - - deafness - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - 1 Mieke Wesdorp
?/. - c.5227C>T r.(?) p.(Arg1743Trp) - Unknown - VUS g.76914163C>T g.77203118C>T MYO7A(NM_000260.3):c.5227C>T (p.R1743W, p.(Arg1743Trp)) - MYO7A_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 38 c.5227C>T r.(?) p.(Arg1743Trp) - Paternal (inferred) ACMG likely benign g.76914163C>T g.77203118C>T - - MYO7A_000150 Homozygous PubMed: Pennings 2004; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033287 Germline - - +BsrI;-MspI;-HpaII;-Sau96I;-AvaII;-BsrFI; - - DNA SEQ - - USH1B ? PubMed: Pennings 2004 Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 38 c.5227C>T r.(?) p.(Arg1743Trp) - Maternal (inferred) ACMG likely benign g.76914163C>T g.77203118C>T - - MYO7A_000150 Homozygous PubMed: Pennings 2004; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033287 Germline - - +BsrI;-MspI;-HpaII;-Sau96I;-AvaII;-BsrFI; - - DNA SEQ - - USH1B ? PubMed: Pennings 2004 Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 38 c.5227C>T r.(?) p.(Arg1743Trp) - Paternal (inferred) ACMG likely benign g.76914163C>T g.77203118C>T - - MYO7A_000150 Homozygous PubMed: Pennings 2004; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033287 Germline - - +BsrI;-MspI;-HpaII;-Sau96I;-AvaII;-BsrFI; - - DNA SEQ - - USH1B ? PubMed: Pennings 2004 Relative - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 38 c.5227C>T r.(?) p.(Arg1743Trp) - Maternal (inferred) ACMG likely benign g.76914163C>T g.77203118C>T - - MYO7A_000150 Homozygous PubMed: Pennings 2004; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033287 Germline - - +BsrI;-MspI;-HpaII;-Sau96I;-AvaII;-BsrFI; - - DNA SEQ - - USH1B ? PubMed: Pennings 2004 Relative - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 38 c.5227C>T r.(?) p.(Arg1743Trp) - Paternal (inferred) ACMG likely benign g.76914163C>T g.77203118C>T - - MYO7A_000150 Homozygous Weston 1998, Assoc Res Otolaryngol Abs, p. 46, 1998 - rs111033287 Germline - 0/192 controls +BsrI;-MspI;-HpaII;-Sau96I;-AvaII;-BsrFI; - - DNA SEQ - - USH1B ? Weston 1998, Assoc Res Otolaryngol Abs, p. 46, 1998 Proband - - United States - - - - - 1 William J. Kimberling
+/+ 38 c.5227C>T r.(?) p.(Arg1743Trp) - Maternal (inferred) ACMG likely benign g.76914163C>T g.77203118C>T - - MYO7A_000150 Homozygous Weston 1998, Assoc Res Otolaryngol Abs, p. 46, 1998 - rs111033287 Germline - 0/192 controls +BsrI;-MspI;-HpaII;-Sau96I;-AvaII;-BsrFI; - - DNA SEQ - - USH1B ? Weston 1998, Assoc Res Otolaryngol Abs, p. 46, 1998 Proband - - United States - - - - - 1 William J. Kimberling
+/+ 38 c.5227C>T r.(?) p.(Arg1743Trp) - Paternal (inferred) ACMG likely benign g.76914163C>T g.77203118C>T - - MYO7A_000150 Homozygous PubMed: Bharadwaj 2000; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033287 Germline - 0/172 controls +BsrI;-MspI;-HpaII;-Sau96I;-AvaII;-BsrFI; - - DNA SEQ - - USH1B ? PubMed: Bharadwaj 2000 Proband - - United Kingdom (Great Britain) - - - - - 1 Anne-Françoise Roux
+/+ 38 c.5227C>T r.(?) p.(Arg1743Trp) - Maternal (inferred) ACMG likely benign g.76914163C>T g.77203118C>T - - MYO7A_000150 Homozygous PubMed: Bharadwaj 2000; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033287 Germline - 0/172 controls +BsrI;-MspI;-HpaII;-Sau96I;-AvaII;-BsrFI; - - DNA SEQ - - USH1B ? PubMed: Bharadwaj 2000 Proband - - United Kingdom (Great Britain) - - - - - 1 Anne-Françoise Roux
+/+ 38 c.5227C>T r.(?) p.(Arg1743Trp) - Parent #2 ACMG likely benign g.76914163C>T g.77203118C>T - - MYO7A_000150 Heterozygous PubMed: Jacobson 2008; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033287 Germline - - +BsrI;-MspI;-HpaII;-Sau96I;-AvaII;-BsrFI; - - DNA SEQ - - USH1B ? PubMed: Jacobson 2008 Proband F - - - - - - - 1 Anne-Françoise Roux
+/+ 38 c.5227C>T r.(?) p.(Arg1743Trp) - Parent #2 ACMG likely benign g.76914163C>T g.77203118C>T - - MYO7A_000150 Heterozygous PubMed: Jacobson 2008; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033287 Germline - - +BsrI;-MspI;-HpaII;-Sau96I;-AvaII;-BsrFI; - - DNA SEQ - - USH1B ? PubMed: Jacobson 2008 Relative F - - - - - - - 1 Anne-Françoise Roux
+/+ 38 c.5227C>T r.(?) p.(Arg1743Trp) - Unknown ACMG likely benign g.76914163C>T g.77203118C>T - - MYO7A_000150 Heterozygous PubMed: Kimberling 2010; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033287 Germline - - +BsrI;-MspI;-HpaII;-Sau96I;-AvaII;-BsrFI; - - DNA SEQ - - DFNB ? PubMed: Kimberling 2010 Proband - No ophtalmologic examination - - United States - - - - - 1 Anne-Françoise Roux
?/. - c.5227C>T r.(?) p.(Arg1743Trp) - Unknown - VUS g.76914163C>T g.77203118C>T MYO7A(NM_000260.3):c.5227C>T (p.R1743W, p.(Arg1743Trp)) - MYO7A_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5227C>T r.(?) p.(Arg1743Trp) - Unknown - likely benign g.76914163C>T - MYO7A(NM_000260.3):c.5227C>T (p.R1743W, p.(Arg1743Trp)) - MYO7A_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.