Variant #0000000215 (NC_000003.11:g.33058334T>C, GLB1(NM_000404.2):c.1348-2A>G)
Individual ID |
00000010 |
Chromosome |
3 |
Allele |
Both (homozygous) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.33058334T>C |
Reference |
- |
DB-ID |
GLB1_000002 |
Average frequency (gnomAD v.2.1.1) |
Variant not found in online data sets |
Owner |
Variome.ir |
Database submission license |
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International |
Created by |
Variome.ir |
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Variant on transcripts
Screenings
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