Variant #0000000364 (NC_000008.10:g.43033381A>G, HGSNAT(NM_152419.2):c.1012+4A>G)
Individual ID |
00000145 |
Chromosome |
8 |
Allele |
Both (homozygous) |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.43033381A>G |
Reference |
- |
DB-ID |
HGSNAT_000004 |
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 |
Variant on transcripts
Screenings
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