Variant #0000000219 (NC_000017.10:g.40690744C>A, NAGLU(NM_000263.3):c.735C>A)
Individual ID |
00000013 |
Chromosome |
17 |
Allele |
Both (homozygous) |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Probably affects function |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.40690744C>A |
Reference |
- |
DB-ID |
NAGLU_000001 |
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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