Variant #0000377576 (NC_000010.10:g.73472882C>T, NC_000010.10(NM_022124.5):c.3369+312C>T (CDH23))
Individual ID |
00167441 |
Chromosome |
10 |
Allele |
Unknown |
Affects function (as reported) |
Does not affect function |
Affects function (by curator) |
Does not affect function |
Classification method |
- |
Clinical classification |
benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.73472882C>T |
DNA change (hg38) |
g.71713125C>T |
Published as |
chr10:g.73472882C>T-c.3446C>T-p.T1149M in ENST00000224721 |
ISCN |
- |
DB-ID |
CDH23_000381 |
Variant remarks |
heterozygous; non causative |
Reference |
PubMed: Rong 2014 |
ClinVar ID |
- |
dbSNP ID |
rs2166631 |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.31393 View details |
Owner |
Anne-Françoise Roux |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Anne-Françoise Roux |
Date created |
2014-08-04 11:55:33 +02:00 (CEST) |
Date last edited |
2015-02-09 17:15:13 +01:00 (CET) |

Variant on transcripts
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