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.

24 entries on 1 page. Showing entries 1 - 24.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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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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Disease     

ID_report     

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Owner     
?/. - c.3625A>G r.(?) p.(Thr1209Ala) - Unknown - VUS g.73490271A>G g.71730514A>G - - CDH23_000091 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.3625A>G r.(?) p.(Thr1209Ala) - Unknown - VUS g.73490271A>G g.71730514A>G - - CDH23_000091 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.3625A>G r.(?) p.(Thr1209Ala) - Unknown - VUS g.73490271A>G g.71730514A>G - - CDH23_000091 - - - - Germline - - - - - DNA SEQ-NG, SEQ, arraySNP, PCR - - HD - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.3625A>G r.(?) p.(Thr1209Ala) - Unknown - VUS g.73490271A>G g.71730514A>G - - CDH23_000091 - - - - Germline - - - - - DNA SEQ-NG, SEQ, arraySNP, PCR - - HD - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.3625A>G r.(?) p.(Thr1209Ala) - Unknown - VUS g.73490271A>G g.71730514A>G - - CDH23_000091 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.3625A>G r.(?) p.(Thr1209Ala) - Unknown - VUS g.73490271A>G g.71730514A>G - - CDH23_000091 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.3625A>G r.(?) p.(Thr1209Ala) - Unknown - VUS g.73490271A>G g.71730514A>G - - CDH23_000091 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.3625A>G r.(?) p.(Thr1209Ala) - Unknown - VUS g.73490271A>G g.71730514A>G - - CDH23_000091 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
-/. - c.3625A>G r.(?) p.(Thr1209Ala) - Unknown - benign g.73490271A>G g.71730514A>G CDH23(NM_022124.5):c.3625A>G (p.T1209A) - CDH23_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/? 31 c.3625A>G r.(?) p.(Thr1209Ala) - Paternal (inferred) ACMG likely benign g.73490271A>G g.71730514A>G - - CDH23_000091 homozygous PubMed: Astuto 2002; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs41281314 Germline - - -Hpy166II 0 - DNA SEQ - - USH - PubMed: Astuto 2002 Proband - - - - - 0 - - 1 Anne-Françoise Roux
-?/? 31 c.3625A>G r.(?) p.(Thr1209Ala) - Maternal (inferred) ACMG likely benign g.73490271A>G g.71730514A>G - - CDH23_000091 homozygous PubMed: Astuto 2002; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs41281314 Germline - - -Hpy166II 0 - DNA SEQ - - USH - PubMed: Astuto 2002 Proband - - - - - 0 - - 1 Anne-Françoise Roux
-?/? 31 c.3625A>G r.(?) p.(Thr1209Ala) - Paternal (inferred) ACMG likely benign g.73490271A>G g.71730514A>G - - CDH23_000091 homozygous PubMed: Zheng 2005; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs41281314 Germline - 0/200 controls -Hpy166II 0 - DNA SEQ - - USH-1 - PubMed: Zheng 2005 Proband F - United States - - 0 - - 1 Anne-Françoise Roux
-?/? 31 c.3625A>G r.(?) p.(Thr1209Ala) - Maternal (inferred) ACMG likely benign g.73490271A>G g.71730514A>G - - CDH23_000091 homozygous PubMed: Zheng 2005; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs41281314 Germline - 0/200 controls -Hpy166II 0 - DNA SEQ - - USH-1 - PubMed: Zheng 2005 Proband F - United States - - 0 - - 1 Anne-Françoise Roux
-?/? 31 c.3625A>G r.(?) p.(Thr1209Ala) - Paternal (inferred) ACMG likely benign g.73490271A>G g.71730514A>G - - CDH23_000091 homozygous PubMed: Ouyang 2005; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs41281314 Germline - 0/200 controls -Hpy166II 0 - DNA SEQ - - USH-1 - PubMed: Ouyang 2005 Proband - - United States - - 0 - - 1 Anne-Françoise Roux
-?/? 31 c.3625A>G r.(?) p.(Thr1209Ala) - Maternal (inferred) ACMG likely benign g.73490271A>G g.71730514A>G - - CDH23_000091 homozygous PubMed: Ouyang 2005; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs41281314 Germline - 0/200 controls -Hpy166II 0 - DNA SEQ - - USH-1 - PubMed: Ouyang 2005 Proband - - United States - - 0 - - 1 Anne-Françoise Roux
-?/? 31 c.3625A>G r.(?) p.(Thr1209Ala) - Unknown ACMG likely benign g.73490271A>G g.71730514A>G - - CDH23_000091 heterozygous PubMed: Jaijo 2010; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs41281314 Germline - - -Hpy166II 0 - DNA SEQ - - USH-1 - PubMed: Jaijo 2010 Relative F - Spain - - 0 - - 1 Jose Maria Millan
-?/? 31 c.3625A>G r.(?) p.(Thr1209Ala) - Parent #2 ACMG likely benign g.73490271A>G g.71730514A>G - - CDH23_000091 heterozygous PubMed: Jaijo 2010; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs41281314 Germline - - -Hpy166II 0 - DNA SEQ - - USH-2 - PubMed: Jaijo 2010 Proband F - Spain - - 0 - - 1 Jose Maria Millan
-?/? 31 c.3625A>G r.(?) p.(Thr1209Ala) - Unknown ACMG likely benign g.73490271A>G g.71730514A>G .3640A>G - p.Thr1214Ala - CDH23_000091 homozygous PubMed: Kimberling 2010; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs41281314 Germline - - -Hpy166II 0 - DNA SEQ - - DFNB - PubMed: Kimberling 2010 Proband - No ophtalmologic examination - - United States - - 0 - - 1 Anne-Françoise Roux
-?/? 31 c.3625A>G r.(?) p.(Thr1209Ala) - Paternal (inferred) ACMG likely benign g.73490271A>G g.71730514A>G - - CDH23_000091 homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs41281314 Germline - - -Hpy166II 0 - DNA SEQ - - USH-1 - PubMed: Baux 2008 Proband F - Guinea - - 0 - - 1 Anne-Françoise Roux
-?/? 31 c.3625A>G r.(?) p.(Thr1209Ala) - Maternal (inferred) ACMG likely benign g.73490271A>G g.71730514A>G - - CDH23_000091 homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs41281314 Germline - - -Hpy166II 0 - DNA SEQ - - USH-1 - PubMed: Baux 2008 Proband F - Guinea - - 0 - - 1 Anne-Françoise Roux
-?/? 31 c.3625A>G r.(?) p.(Thr1209Ala) - Unknown ACMG likely benign g.73490271A>G g.71730514A>G - - CDH23_000091 heterozygous; non pathogenic PubMed: Vozzi 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs41281314 Germline - - -Hpy166II 0 - DNA PE, SEQ - APEX USH-2 - PubMed: Vozzi 2011 Proband - - Italy - - 0 - - 1 Anne-Françoise Roux
-?/? 31 c.3625A>G r.(?) p.(Thr1209Ala) - Parent #1 ACMG likely benign g.73490271A>G g.71730514A>G - - CDH23_000091 heterozygous; Mutation PubMed: Vozzi 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs41281314 Germline - - -Hpy166II 0 - DNA PE, SEQ - APEX USH-1 - PubMed: Vozzi 2011 Proband - - Italy - - 0 - - 1 Anne-Françoise Roux
-?/? 31 c.3625A>G r.(?) p.(Thr1209Ala) - Unknown ACMG likely benign g.73490271A>G g.71730514A>G - - CDH23_000091 heterozygous PubMed: Licastro 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs41281314 Germline - - -Hpy166II 0 - DNA SEQ, SEQ-NG-S - - USH-2 - PubMed: Licastro 2012 Proband - - Italy - - 0 - - 1 Anne-Françoise Roux
-/. - c.3625A>G r.(?) p.(Thr1209Ala) - Unknown - benign g.73490271A>G g.71730514A>G CDH23(NM_022124.5):c.3625A>G (p.T1209A) - CDH23_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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