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.

2 entries on 1 page. Showing entries 1 - 2.
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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     
+/+ 39 c.5015_5016del r.(?) p.(Tyr1672Cysfs*64) Cadherin 16 (1635-1744) Maternal (confirmed) - pathogenic g.73537606_73537607del g.71777849_71777850del - - CDH23_000358 heterozygous PubMed: Besnard, Garcia-Garcia 2014 - - Germline - - +BfuAI;+BspMI; - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Besnard, Garcia-Garcia 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
+/+ 39 c.5015_5016del r.(?) p.(Tyr1672Cysfs*64) Cadherin 16 (1635-1744) Maternal (confirmed) - pathogenic g.73537606_73537607del g.71777849_71777850del - - CDH23_000358 heterozygous PubMed: Besnard, Garcia-Garcia 2014 - - Germline - - +BfuAI;+BspMI; - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Besnard, Garcia-Garcia 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
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