Variant #0000000291 (NC_000008.10:g.43028883C>T, HGSNAT(NM_152419.2):c.848C>T)
Individual ID |
00000077 |
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.43028883C>T |
Reference |
https://varsome.com/variant/hg19/chr8-43028883-C-T |
DB-ID |
HGSNAT_000002 |
Average frequency (gnomAD v.2.1.1) |
3.0E-5 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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