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.

30 entries on 1 page. Showing entries 1 - 30.
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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     

Treatment     

Panel size     

Owner     
-/. - c.4051A>G r.(?) p.(Asn1351Asp) - Unknown - benign g.73492079A>G g.71732322A>G C10orf105(NM_001168390.2):c.-6+5406T>C, CDH23(NM_022124.6):c.4051A>G (p.N1351D) - CDH23_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 32 c.4051A>G r.(?) p.(Asn1351Asp) Cadherin 13 (1314-1418) Unknown - benign g.73492079A>G g.71732322A>G - - CDH23_000031 heterozygous PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1227065 Germline - - +TaqI;+Hpy99I;+HgaI;+bsaHI; - - DNA SEQ - - USH1 - PubMed: Roux 2006 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 32 c.4051A>G r.(?) p.(Asn1351Asp) Cadherin 13 (1314-1418) Paternal (inferred) - benign g.73492079A>G g.71732322A>G - - CDH23_000031 homozygous PubMed: Ammar-Khodja 2009; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1227065 Germline - - +TaqI;+Hpy99I;+HgaI;+bsaHI; - - DNA SEQ - - DFNB - PubMed: Ammar-Khodja 2009 Proband F - Algeria - - - - - 1 Anne-Françoise Roux
-/- 32 c.4051A>G r.(?) p.(Asn1351Asp) Cadherin 13 (1314-1418) Maternal (inferred) - benign g.73492079A>G g.71732322A>G - - CDH23_000031 homozygous PubMed: Ammar-Khodja 2009; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1227065 Germline - - +TaqI;+Hpy99I;+HgaI;+bsaHI; - - DNA SEQ - - DFNB - PubMed: Ammar-Khodja 2009 Proband F - Algeria - - - - - 1 Anne-Françoise Roux
-/- 32 c.4051A>G r.(?) p.(Asn1351Asp) Cadherin 13 (1314-1418) Paternal (inferred) - benign g.73492079A>G g.71732322A>G - - CDH23_000031 homozygous PubMed: Ammar-Khodja 2009; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1227065 Germline - - +TaqI;+Hpy99I;+HgaI;+bsaHI; - - DNA minigene, SEQ - - USH1 - PubMed: Ammar-Khodja 2009 Proband F - Algeria - - - - - 1 Anne-Françoise Roux
-/- 32 c.4051A>G r.(?) p.(Asn1351Asp) Cadherin 13 (1314-1418) Maternal (inferred) - benign g.73492079A>G g.71732322A>G - - CDH23_000031 homozygous PubMed: Ammar-Khodja 2009; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1227065 Germline - - +TaqI;+Hpy99I;+HgaI;+bsaHI; - - DNA minigene, SEQ - - USH1 - PubMed: Ammar-Khodja 2009 Proband F - Algeria - - - - - 1 Anne-Françoise Roux
-/- 32 c.4051A>G r.(?) p.(Asn1351Asp) Cadherin 13 (1314-1418) Paternal (inferred) - benign g.73492079A>G g.71732322A>G - - CDH23_000031 homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1227065 Germline - - +TaqI;+Hpy99I;+HgaI;+bsaHI; - - DNA SEQ - - USH1 - PubMed: Baux 2008 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 32 c.4051A>G r.(?) p.(Asn1351Asp) Cadherin 13 (1314-1418) Maternal (inferred) - benign g.73492079A>G g.71732322A>G - - CDH23_000031 homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1227065 Germline - - +TaqI;+Hpy99I;+HgaI;+bsaHI; - - DNA SEQ - - USH1 - PubMed: Baux 2008 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 32 c.4051A>G r.(?) p.(Asn1351Asp) Cadherin 13 (1314-1418) Unknown - benign g.73492079A>G g.71732322A>G - - CDH23_000031 heterozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1227065 Germline - - +TaqI;+Hpy99I;+HgaI;+bsaHI; - - DNA SEQ - - USH1 - PubMed: Roux 2011 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 32 c.4051A>G r.(?) p.(Asn1351Asp) Cadherin 13 (1314-1418) Paternal (inferred) - benign g.73492079A>G g.71732322A>G - - CDH23_000031 homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1227065 Germline - - +TaqI;+Hpy99I;+HgaI;+bsaHI; - - DNA SEQ - - USH1 - PubMed: Baux 2008 Proband F - Guinea - - - - - 1 Anne-Françoise Roux
-/- 32 c.4051A>G r.(?) p.(Asn1351Asp) Cadherin 13 (1314-1418) Maternal (inferred) - benign g.73492079A>G g.71732322A>G - - CDH23_000031 homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1227065 Germline - - +TaqI;+Hpy99I;+HgaI;+bsaHI; - - DNA SEQ - - USH1 - PubMed: Baux 2008 Proband F - Guinea - - - - - 1 Anne-Françoise Roux
-/- 32 c.4051A>G r.(?) p.(Asn1351Asp) Cadherin 13 (1314-1418) Paternal (inferred) - benign g.73492079A>G g.71732322A>G - - CDH23_000031 homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1227065 Germline - - +TaqI;+Hpy99I;+HgaI;+bsaHI; - - DNA SEQ - - USH1 - PubMed: Roux 2011 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 32 c.4051A>G r.(?) p.(Asn1351Asp) Cadherin 13 (1314-1418) Maternal (inferred) - benign g.73492079A>G g.71732322A>G - - CDH23_000031 homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1227065 Germline - - +TaqI;+Hpy99I;+HgaI;+bsaHI; - - DNA SEQ - - USH1 - PubMed: Roux 2011 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 32 c.4051A>G r.(?) p.(Asn1351Asp) Cadherin 13 (1314-1418) Unknown - benign g.73492079A>G g.71732322A>G - - CDH23_000031 heterozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1227065 Germline - - +TaqI;+Hpy99I;+HgaI;+bsaHI; - - DNA SEQ - - USH1 - PubMed: Roux 2011 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 32 c.4051A>G r.(?) p.(Asn1351Asp) Cadherin 13 (1314-1418) Paternal (inferred) - benign g.73492079A>G g.71732322A>G - - CDH23_000031 homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1227065 Germline - - +TaqI;+Hpy99I;+HgaI;+bsaHI; - - DNA SEQ - - USH1 - PubMed: Roux 2011 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 32 c.4051A>G r.(?) p.(Asn1351Asp) Cadherin 13 (1314-1418) Maternal (inferred) - benign g.73492079A>G g.71732322A>G - - CDH23_000031 homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1227065 Germline - - +TaqI;+Hpy99I;+HgaI;+bsaHI; - - DNA SEQ - - USH1 - PubMed: Roux 2011 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 32 c.4051A>G r.(?) p.(Asn1351Asp) Cadherin 13 (1314-1418) Paternal (inferred) - benign g.73492079A>G g.71732322A>G - - CDH23_000031 homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1227065 Germline - - +TaqI;+Hpy99I;+HgaI;+bsaHI; - - DNA SEQ - - USH1 - PubMed: Roux 2011 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 32 c.4051A>G r.(?) p.(Asn1351Asp) Cadherin 13 (1314-1418) Maternal (inferred) - benign g.73492079A>G g.71732322A>G - - CDH23_000031 homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1227065 Germline - - +TaqI;+Hpy99I;+HgaI;+bsaHI; - - DNA SEQ - - USH1 - PubMed: Roux 2011 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 32 c.4051A>G r.(?) p.(Asn1351Asp) Cadherin 13 (1314-1418) Paternal (inferred) - benign g.73492079A>G g.71732322A>G - - CDH23_000031 homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1227065 Germline - - +TaqI;+Hpy99I;+HgaI;+bsaHI; - - DNA SEQ - - USH1 - PubMed: Roux 2011 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 32 c.4051A>G r.(?) p.(Asn1351Asp) Cadherin 13 (1314-1418) Maternal (inferred) - benign g.73492079A>G g.71732322A>G - - CDH23_000031 homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1227065 Germline - - +TaqI;+Hpy99I;+HgaI;+bsaHI; - - DNA SEQ - - USH1 - PubMed: Roux 2011 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 32 c.4051A>G r.(?) p.(Asn1351Asp) Cadherin 13 (1314-1418) Paternal (inferred) - benign g.73492079A>G g.71732322A>G - - CDH23_000031 homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1227065 Germline - - +TaqI;+Hpy99I;+HgaI;+bsaHI; - - DNA SEQ - - USH1 - PubMed: Roux 2011 Proband M - Italy - - - - - 1 Anne-Françoise Roux
-/- 32 c.4051A>G r.(?) p.(Asn1351Asp) Cadherin 13 (1314-1418) Maternal (inferred) - benign g.73492079A>G g.71732322A>G - - CDH23_000031 homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1227065 Germline - - +TaqI;+Hpy99I;+HgaI;+bsaHI; - - DNA SEQ - - USH1 - PubMed: Roux 2011 Proband M - Italy - - - - - 1 Anne-Françoise Roux
-/- 32 c.4051A>G r.(?) p.(Asn1351Asp ) Cadherin 13 (1314-1418) Paternal (inferred) - benign g.73492079A>G g.71732322A>G - - CDH23_000031 homozygous; Neutral PubMed: Le Quesne Stabej 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1227065 Germline - - +TaqI;+Hpy99I;+HgaI;+bsaHI; - - DNA SEQ - - USH1 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 32 c.4051A>G r.(?) p.(Asn1351Asp ) Cadherin 13 (1314-1418) Maternal (inferred) - benign g.73492079A>G g.71732322A>G - - CDH23_000031 homozygous; Neutral PubMed: Le Quesne Stabej 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1227065 Germline - - +TaqI;+Hpy99I;+HgaI;+bsaHI; - - DNA SEQ - - USH1 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 32 c.4051A>G r.(?) p.(Asn1351Asp) Cadherin 13 (1314-1418) Unknown - benign g.73492079A>G g.71732322A>G - - CDH23_000031 heterozygous PubMed: Aparis 2013; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1227065 Germline - - +TaqI;+Hpy99I;+HgaI;+bsaHI; - - DNA minigene, RT-PCR, SEQ - - USH1 - PubMed: Aparisi 2013 Proband - - Spain - - - - - 1 Jose Maria Millan
-/- 32 c.4051A>G r.(?) p.(Asn1351Asp) Cadherin 13 (1314-1418) Paternal (inferred) - benign g.73492079A>G g.71732322A>G - - CDH23_000031 homozygous; non causative PubMed: Rong 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1227065 Germline - - +TaqI;+Hpy99I;+HgaI;+bsaHI; - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Rong 2014 Proband - variants found in samples of two affected brothers. They carry the same causative mutations in MYO7A, but other variants cannot be discriminated from the publication. M - China - - - - - 1 Anne-Françoise Roux
-/- 32 c.4051A>G r.(?) p.(Asn1351Asp) Cadherin 13 (1314-1418) Maternal (inferred) - benign g.73492079A>G g.71732322A>G - - CDH23_000031 homozygous; non causative PubMed: Rong 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1227065 Germline - - +TaqI;+Hpy99I;+HgaI;+bsaHI; - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Rong 2014 Proband - variants found in samples of two affected brothers. They carry the same causative mutations in MYO7A, but other variants cannot be discriminated from the publication. M - China - - - - - 1 Anne-Françoise Roux
-/- 32 c.4051A>G r.(?) p.(Asn1351Asp) Cadherin 13 (1314-1418) Unknown - benign g.73492079A>G g.71732322A>G - - CDH23_000031 heterozygous; non causative PubMed: Rong 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1227065 Germline - - +TaqI;+Hpy99I;+HgaI;+bsaHI; - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Rong 2014 Proband F - China - - - - - 1 Anne-Françoise Roux
-/- 32 c.4051A>G r.(?) p.(Asn1351Asp) Cadherin 13 (1314-1418) Paternal (inferred) - benign g.73492079A>G g.71732322A>G - - CDH23_000031 homozygous; non causative PubMed: Rong 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1227065 Germline - - +TaqI;+Hpy99I;+HgaI;+bsaHI; - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Rong 2014 Proband M - China - - - - - 1 Anne-Françoise Roux
-/- 32 c.4051A>G r.(?) p.(Asn1351Asp) Cadherin 13 (1314-1418) Maternal (inferred) - benign g.73492079A>G g.71732322A>G - - CDH23_000031 homozygous; non causative PubMed: Rong 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1227065 Germline - - +TaqI;+Hpy99I;+HgaI;+bsaHI; - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Rong 2014 Proband M - China - - - - - 1 Anne-Françoise Roux
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