Variant #0000464304 (NC_000008.10:g.43014064A>G, HGSNAT(NM_152419.2):c.372-2A>G)
Individual ID |
00226235 |
Chromosome |
8 |
Allele |
Both (homozygous) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic (recessive) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.43014064A>G |
DNA change (hg38) |
g.43158921A>G |
Published as |
- |
ISCN |
- |
DB-ID |
HGSNAT_000042 See all 6 reported entries |
Variant remarks |
- |
Reference |
PubMed: Martins 2019, Journal: Martins 2019 |
ClinVar ID |
1236 |
dbSNP ID |
rs483352896 |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
3.0E-5 View details |
Owner |
Carla Martins |
Database submission license |
No license selected |
Created by |
Carla Martins |

Variant on transcripts
Screenings
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