Variant #0000181280 (NC_000008.10:g.43014188G>A, HGSNAT(NM_152419.2):c.493+1G>A)
Individual ID |
00112250 |
Chromosome |
8 |
Allele |
Both (homozygous) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.43014188G>A |
DNA change (hg38) |
g.43159045G>A |
Published as |
c.577+1G>A |
ISCN |
- |
DB-ID |
HGSNAT_000001 See all 5 reported entries |
Variant remarks |
- |
Reference |
PubMed: Fan 2006 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
-BsiWI |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
4.0E-5 View details |
Owner |
Stéphanie Durand |
Database submission license |
No license selected |
Created by |
Stéphanie Durand |

Variant on transcripts
Screenings
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