Variant #0000001807 (NC_000023.10:g.70443646T>A, GJB1(NM_001097642.2):c.89T>A)
Individual ID |
00001807 |
Chromosome |
X |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.70443646T>A |
Reference |
Bone LJ1, Dahl N, Lensch MW, Chance PF, Kelly T, Le Guern E, Magi S, Parry G, Shapiro H, Wang S, et al.(1995) |
DB-ID |
GJB1_000012 |
Frequency |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Y Yang |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Y Yang |
Variant on transcripts
Screenings
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