Variant #0000000040 (NC_000010.10:g.73434910C>G, CDH23(NM_022124.5):c.1491C>G)

Individual ID 00000055
Chromosome 10
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.73434910C>G
Reference -
DB-ID CDH23_000001
Average frequency (gnomAD v.2.1.1) Retrieve
Owner variome.ir
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by variome.ir
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Classification     
CDH23 NM_022124.5 +/+ - c.1491C>G r.(?) p.(Tyr497*) Pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000055 DNA SEQ-NG CDH23 1 variome.ir