Variant #0000641941 (NC_000014.8:g.31348118T>C, NM_004086.2:c.341T>C (COCH))
Individual ID |
00285049 |
Chromosome |
14 |
Allele |
Parent #1 |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic (dominant) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.31348118T>C |
DNA change (hg38) |
g.30878912T>C |
Published as |
T341C |
ISCN |
- |
DB-ID |
COCH_000035 |
Variant remarks |
- |
Reference |
PubMed: Choi 2013 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Global Variome, with Curator vacancy |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Julia Lopez |
Date created |
2020-02-05 13:36:16 +01:00 (CET) |
Date last edited |
2021-12-20 19:00:58 +01:00 (CET) |

Variant on transcripts
Screenings
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