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     
?/. - c.287A>T r.(?) p.(Glu96Val) - Unknown ACMG VUS g.73269980A>T - - - CDH23_000853 - PubMed: Kim 2022, Journal: Kim 2022 - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - DFNA1 - PubMed: Kim 2022, Journal: Kim 2022 - - - Korea, South (Republic) - - - - - 1 So Young Kim
?/. - c.287A>T r.(?) p.(Glu96Val) - Unknown ACMG VUS g.73492032A>T - - - CDH23_000853 - PubMed: Kim 2022, Journal: Kim 2022 - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - DFNA1 - PubMed: Kim 2022, Journal: Kim 2022 - - - Korea, South (Republic) - - - - - 1 So Young Kim
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