Variant #0000085296 (NC_000001.10:g.35250860A>G, NM_024009.2:c.497A>G (GJB3))
Individual ID |
00055322 |
Chromosome |
1 |
Allele |
Parent #1 |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.35250860A>G |
DNA change (hg38) |
g.34785259A>G |
Published as |
- |
ISCN |
- |
DB-ID |
GJB3_000033 |
Variant remarks |
GJB2 1 bp deletion; possible di-genic inheritance |
Reference |
PubMed: Liu 2009 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Unknown |
Segregation |
? |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
1.0E-5 View details |
Owner |
Michel van Geel |
Database submission license |
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International |
Created by |
Michel van Geel |
Date created |
2011-10-23 14:44:42 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
Screenings
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