Variant #0000000280 (NC_000008.10:g.43027451A>G, HGSNAT(NM_152419.2):c.744-2A>G)
Individual ID |
00000066 |
Chromosome |
8 |
Allele |
Both (homozygous) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.43027451A>G |
Reference |
Varsome link: https://varsome.com/variant/hg19/NM_152419%3Ac.744-2A%3EG |
DB-ID |
HGSNAT_000001 |
Average frequency (gnomAD v.2.1.1) |
0 View details |
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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