Variant #0001012420 (NC_000017.10:g.78188879T>C, NM_000199.3:c.308A>G (SGSH))
Individual ID |
00456256 |
Chromosome |
17 |
Allele |
Parent #1 |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.78188879T>C |
DNA change (hg38) |
g.80215080T>C |
Published as |
- |
ISCN |
- |
DB-ID |
SGSH_000199 |
Variant remarks |
- |
Reference |
PubMed: Fernandez-Marmiesse 2014 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
4.0E-5 View details |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2024-10-24 08:52:57 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
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