Variant #0000000430 (NC_000017.10:g.40690359_40690360delGT, NAGLU(NM_000263.3):c.534_535delGT)
Individual ID |
00000205 |
Chromosome |
17 |
Allele |
Both (homozygous) |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.40690359_40690360delGT |
Reference |
- |
DB-ID |
NAGLU_000010 |
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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