Full data view for gene CDH23


This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Information The variants shown are described using the NM_022124.5 transcript reference sequence.

33 entries on 1 page. Showing entries 1 - 33.
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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     
+?/. - c.2236G>A r.(?) p.(Val746Ile) - Unknown - likely pathogenic g.73453963G>A g.71694206G>A c.2236G>A, p.Val746Ile - CDH23_000002 heterozygous PubMed: Gao 2019 - - Germline ? - - - - DNA SEQ-NG - - retinal disease RD18088615_A PubMed: Gao 2019 - ? - China - - - - - 1 LOVD
+/+ 41 c.5237G>A r.(?) p.(Arg1746Gln) Cadherin 17 (1745-1851) Paternal (inferred) - pathogenic g.73539073G>A g.71779316G>A - - CDH23_000002 homozygous PubMed: Bolz 2001; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033270 Germline - 0/400 controls +PspGI;+BstNI;-TspMI;-XmaI;-MspI;-HpaII; - - DNA SEQ - - USH - PubMed: Bolz 2001 Proband M - Cuba - - - - - 1 Anne-Françoise Roux
+/+ 41 c.5237G>A r.(?) p.(Arg1746Gln) Cadherin 17 (1745-1851) Paternal (inferred) - pathogenic g.73539073G>A g.71779316G>A - - CDH23_000002 homozygous PubMed: Bolz 2001; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033270 Germline - 0/400 controls +PspGI;+BstNI;-TspMI;-XmaI;-MspI;-HpaII; - - DNA SEQ - - USH - PubMed: Bolz 2001 Relative M - Cuba - - - - - 1 Anne-Françoise Roux
+/+ 41 c.5237G>A r.(?) p.(Arg1746Gln) Cadherin 17 (1745-1851) Parent #2 - pathogenic g.73539073G>A g.71779316G>A - - CDH23_000002 heterozygous PubMed: Bolz 2001; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033270 Germline - 0/400 controls +PspGI;+BstNI;-TspMI;-XmaI;-MspI;-HpaII; - - DNA SEQ - - USH1 - PubMed: Bolz 2001 Proband M - Cuba - - - - - 1 Anne-Françoise Roux
+/+ 41 c.5237G>A r.(?) p.(Arg1746Gln) Cadherin 17 (1745-1851) Parent #2 - pathogenic g.73539073G>A g.71779316G>A - - CDH23_000002 heterozygous PubMed: Bolz 2001; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033270 Germline - 0/400 controls +PspGI;+BstNI;-TspMI;-XmaI;-MspI;-HpaII; - - DNA SEQ - - USH1 - PubMed: Bolz 2001 Relative F - Cuba - - - - - 1 Anne-Françoise Roux
+/+ 41 c.5237G>A r.(?) p.(Arg1746Gln) Cadherin 17 (1745-1851) Maternal (inferred) - pathogenic g.73539073G>A g.71779316G>A - - CDH23_000002 homozygous PubMed: Bolz 2001; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033270 Germline - 0/400 controls +PspGI;+BstNI;-TspMI;-XmaI;-MspI;-HpaII; - - DNA SEQ - - USH - PubMed: Bolz 2001 Proband M - Cuba - - - - - 1 Anne-Françoise Roux
+/+ 41 c.5237G>A r.(?) p.(Arg1746Gln) Cadherin 17 (1745-1851) Maternal (inferred) - pathogenic g.73539073G>A g.71779316G>A - - CDH23_000002 homozygous PubMed: Bolz 2001; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033270 Germline - 0/400 controls +PspGI;+BstNI;-TspMI;-XmaI;-MspI;-HpaII; - - DNA SEQ - - USH - PubMed: Bolz 2001 Relative M - Cuba - - - - - 1 Anne-Françoise Roux
+/+ 41 c.5237G>A r.(?) p.(Arg1746Gln) Cadherin 17 (1745-1851) Paternal (inferred) - pathogenic g.73539073G>A g.71779316G>A - - CDH23_000002 homozygous PubMed: Astuto 2002; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033270 Germline - - +PspGI;+BstNI;-TspMI;-XmaI;-MspI;-HpaII; - - DNA SEQ - - USH - PubMed: Astuto 2002 Proband - - - European - - - - 1 Anne-Françoise Roux
+/+ 41 c.5237G>A r.(?) p.(Arg1746Gln) Cadherin 17 (1745-1851) Parent #1 - pathogenic g.73539073G>A g.71779316G>A - - CDH23_000002 heterozygous PubMed: Astuto 2002; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033270 Germline - - +PspGI;+BstNI;-TspMI;-XmaI;-MspI;-HpaII; - - DNA SEQ - - RPar - PubMed: Astuto 2002 Proband M - - European - - - - 1 Anne-Françoise Roux
+/+ 41 c.5237G>A r.(?) p.(Arg1746Gln) Cadherin 17 (1745-1851) Maternal (inferred) - pathogenic g.73539073G>A g.71779316G>A - - CDH23_000002 homozygous PubMed: Astuto 2002; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033270 Germline - - +PspGI;+BstNI;-TspMI;-XmaI;-MspI;-HpaII; - - DNA SEQ - - USH - PubMed: Astuto 2002 Proband - - - European - - - - 1 Anne-Françoise Roux
+/+ 41 c.5237G>A r.(?) p.(Arg1746Gln) Cadherin 17 (1745-1851) Parent #2 - pathogenic g.73539073G>A g.71779316G>A - - CDH23_000002 heterozygous PubMed: Astuto 2002; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033270 Germline - - +PspGI;+BstNI;-TspMI;-XmaI;-MspI;-HpaII; - - DNA SEQ - - USH - PubMed: Astuto 2002 Proband - - - European - - - - 1 Anne-Françoise Roux
+/+ 41 c.5237G>A r.(?) p.(Arg1746Gln) Cadherin 17 (1745-1851) Parent #2 - pathogenic g.73539073G>A g.71779316G>A - - CDH23_000002 heterozygous PubMed: Astuto 2002; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033270 Germline - - +PspGI;+BstNI;-TspMI;-XmaI;-MspI;-HpaII; - - DNA SEQ - - USH - PubMed: Astuto 2002 Relative - - - European - - - - 1 Anne-Françoise Roux
+/+ 41 c.5237G>A r.(?) p.(Arg1746Gln) Cadherin 17 (1745-1851) Parent #1 - pathogenic g.73539073G>A g.71779316G>A - - CDH23_000002 heterozygous PubMed: Astuto 2002; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033270 Germline - - +PspGI;+BstNI;-TspMI;-XmaI;-MspI;-HpaII; - - DNA SEQ - - USH - PubMed: Astuto 2002 Proband - - Germany - - - - - 1 Anne-Françoise Roux
+/+ 41 c.5237G>A r.(?) p.(Arg1746Gln) Cadherin 17 (1745-1851) Paternal (inferred) - pathogenic g.73539073G>A g.71779316G>A - - CDH23_000002 homozygous PubMed: Astuto 2002; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033270 Germline - - +PspGI;+BstNI;-TspMI;-XmaI;-MspI;-HpaII; - - DNA SEQ - - USH - PubMed: Astuto 2002 Proband - - Ireland - - - - - 1 Anne-Françoise Roux
+/+ 41 c.5237G>A r.(?) p.(Arg1746Gln) Cadherin 17 (1745-1851) Paternal (inferred) - pathogenic g.73539073G>A g.71779316G>A - - CDH23_000002 homozygous PubMed: Astuto 2002; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033270 Germline - - +PspGI;+BstNI;-TspMI;-XmaI;-MspI;-HpaII; - - DNA SEQ - - USH - PubMed: Astuto 2002 Relative - - Ireland - - - - - 1 Anne-Françoise Roux
+/+ 41 c.5237G>A r.(?) p.(Arg1746Gln) Cadherin 17 (1745-1851) Maternal (inferred) - pathogenic g.73539073G>A g.71779316G>A - - CDH23_000002 homozygous PubMed: Astuto 2002; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033270 Germline - - +PspGI;+BstNI;-TspMI;-XmaI;-MspI;-HpaII; - - DNA SEQ - - USH - PubMed: Astuto 2002 Proband - - Ireland - - - - - 1 Anne-Françoise Roux
+/+ 41 c.5237G>A r.(?) p.(Arg1746Gln) Cadherin 17 (1745-1851) Maternal (inferred) - pathogenic g.73539073G>A g.71779316G>A - - CDH23_000002 homozygous PubMed: Astuto 2002; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033270 Germline - - +PspGI;+BstNI;-TspMI;-XmaI;-MspI;-HpaII; - - DNA SEQ - - USH - PubMed: Astuto 2002 Relative - - Ireland - - - - - 1 Anne-Françoise Roux
+/+ 41 c.5237G>A r.(?) p.(Arg1746Gln) Cadherin 17 (1745-1851) Unknown - pathogenic g.73539073G>A g.71779316G>A - - CDH23_000002 homozygous PubMed: Kimberling 2010; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033270 Germline - - +PspGI;+BstNI;-TspMI;-XmaI;-MspI;-HpaII; - - DNA SEQ - - DFNB - PubMed: Kimberling 2010 Proband - No ophtalmologic examination - - United States - - - - - 1 Anne-Françoise Roux
+/+ 41 c.5237G>A r.(?) p.(Arg1746Gln) Cadherin 17 (1745-1851) Maternal (confirmed) - pathogenic g.73539073G>A g.71779316G>A - - CDH23_000002 heterozygous; Mutation PubMed: Schultz 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033270 Germline - - +PspGI;+BstNI;-TspMI;-XmaI;-MspI;-HpaII; - - DNA SEQ - - USH1 - PubMed: Schultz 2011 Proband - daughter 1 F - United States - - - - - 1 Anne-Françoise Roux
+/+ 41 c.5237G>A r.(?) p.(Arg1746Gln) Cadherin 17 (1745-1851) Maternal (confirmed) - pathogenic g.73539073G>A g.71779316G>A - - CDH23_000002 heterozygous; Mutation PubMed: Schultz 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033270 Germline - - +PspGI;+BstNI;-TspMI;-XmaI;-MspI;-HpaII; - - DNA SEQ - - DFNB - PubMed: Schultz 2011 Proband M - United States - - - - - 1 Anne-Françoise Roux
+/+ 41 c.5237G>A r.(?) p.(Arg1746Gln) Cadherin 17 (1745-1851) Maternal (confirmed) - pathogenic g.73539073G>A g.71779316G>A - - CDH23_000002 heterozygous; Mutation PubMed: Schultz 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033270 Germline - - +PspGI;+BstNI;-TspMI;-XmaI;-MspI;-HpaII; - - DNA SEQ - - DFNB - PubMed: Schultz 2011 Relative - intrafamilial phenotypic variability M - United States - - - - - 1 Anne-Françoise Roux
+/+ 41 c.5237G>A r.(?) p.(Arg1746Gln) Cadherin 17 (1745-1851) Unknown - pathogenic g.73539073G>A g.71779316G>A - - CDH23_000002 heterozygous; Mutation PubMed: Schultz 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033270 Germline - - +PspGI;+BstNI;-TspMI;-XmaI;-MspI;-HpaII; - - DNA SEQ - - USH1 - PubMed: Schultz 2011 Proband - mother F - United States - - - - - 1 Anne-Françoise Roux
+/+ 41 c.5237G>A r.(?) p.(Arg1746Gln) Cadherin 17 (1745-1851) Unknown - pathogenic g.73539073G>A g.71779316G>A - - CDH23_000002 heterozygous PubMed: Bujakowska 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033270 Germline - - +PspGI;+BstNI;-TspMI;-XmaI;-MspI;-HpaII; - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Bujakowska 2014 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 41 c.5237G>A r.(?) p.(Arg1746Gln) Cadherin 17 (1745-1851) Unknown - pathogenic g.73539073G>A g.71779316G>A - - CDH23_000002 heterozygous PubMed: Bujakowska 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033270 Germline - - +PspGI;+BstNI;-TspMI;-XmaI;-MspI;-HpaII; - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Bujakowska 2014 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 41 c.5237G>A r.(?) p.(Arg1746Gln) Cadherin 17 (1745-1851) Unknown - pathogenic g.73539073G>A g.71779316G>A - - CDH23_000002 heterozygous PubMed: Bujakowska 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033270 Germline - - +PspGI;+BstNI;-TspMI;-XmaI;-MspI;-HpaII; - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Bujakowska 2014 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 41 c.5237G>A r.(?) p.(Arg1746Gln) Cadherin 17 (1745-1851) Unknown - pathogenic g.73539073G>A g.71779316G>A - - CDH23_000002 heterozygous PubMed: Bujakowska 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033270 Germline - - +PspGI;+BstNI;-TspMI;-XmaI;-MspI;-HpaII; - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Bujakowska 2014 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/. 39 c.5237G>A r.(?) p.(Arg1746Gln) - Both (homozygous) - pathogenic (recessive) g.73539073G>A g.71779316G>A - - CDH23_000002 - Journal: Kannan-Sundhari 2020 - rs111033270 Germline - - - - - DNA SEQ, SEQ-NG - 180-gene panel HL KF-3 Journal: Kannan-Sundhari 2020 5-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives F yes Iran - - - - - 2 Johan den Dunnen
+/. - c.5237G>A r.(?) p.(Arg1746Gln) - Both (homozygous) - pathogenic g.73539073G>A g.71779316G>A - - CDH23_000002 - PubMed: Zhao 2015 - - Germline - - - - - DNA SEQ-NG - 86-gene panel retinal disease Rp78 PubMed: Zhao 2015 simplex case - - Northern Ireland - - - - - 1 LOVD
+/. - c.5237G>A r.(?) p.(Arg1746Gln) - Parent #2 - pathogenic g.73539073G>A g.71779316G>A - - CDH23_000002 - PubMed: Zhao 2015 - - Germline - - - - - DNA SEQ-NG - 86-gene panel retinal disease Rp399A PubMed: Zhao 2015 simplex case - - Northern Ireland - - - - - 1 LOVD
+/. - c.5237G>A r.(?) p.(Arg1746Gln) - Unknown - pathogenic g.73539073G>A g.71779316G>A c.5237G>A, p.Arg1751Gln - CDH23_000002 different transcript, error in annotation, NM_022124.5(CDH23):c.5237G>A, p.(Arg1746Gln), heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI2858_004443 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.5237G>A r.(?) p.(Arg1746Gln) - Unknown - likely pathogenic g.73539073G>A g.71779316G>A CDH23 c.5237G>A, p.Arg1746Gln - CDH23_000002 - PubMed: Georgiou 2021 - - Unknown ? - - - - DNA SEQ-NG blood retrospective study retinal disease P9 PubMed: Georgiou 2021 pedigree ID: 21894, genetic ID: 33976 M - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. 41 c.5237G>A r.(?) p.(Arg1746Gln) - Unknown - likely pathogenic g.73539073G>A - c.5237G>A,p.R1746Q - CDH23_000002 - PubMed: Wafa-2021 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Wafa 2021 - - - United States - - - - - 1 LOVD
+?/. 41 c.5237G>A r.(?) p.(Arg1746Gln) - Unknown - likely pathogenic g.73539073G>A - p.R1746Q - CDH23_000002 - PubMed: Wafa-2021 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Wafa 2021 - - - United States - - - - - 1 LOVD
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