Variant #0000736656 (NC_000010.10:g.73563177G>A, NM_022124.5:c.7872G>A (CDH23))
Individual ID |
00335859 |
Chromosome |
10 |
Allele |
Both (homozygous) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic (recessive) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.73563177G>A |
DNA change (hg38) |
g.71803420G>A |
Published as |
- |
ISCN |
- |
DB-ID |
CDH23_000104 See all 7 reported entries |
Variant remarks |
- |
Reference |
Tranebjaerg 2011, PubMed: Dad 2016 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
LOVD |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2021-03-09 15:40:50 +01:00 (CET) |
Date last edited |
N/A |

Variant on transcripts
Screenings
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