Variant #0000000671 (NC_000017.10:g.78190883G>C, NM_000199.3:c.197C>G (SGSH))
| Individual ID |
00000049 |
| Chromosome |
17 |
| Allele |
Unknown |
| 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.78190883G>C |
| DNA change (hg38) |
g.80217084G>C |
| Published as |
- |
| ISCN |
- |
| DB-ID |
SGSH_000008 See all 9 reported entries |
| Variant remarks |
- |
| Reference |
- |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
0.0001 View details |
| Owner |
Gerard C.P. Schaafsma |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Gerard C.P. Schaafsma |
| Date created |
2011-04-06 16:20:25 +02:00 (CEST) |
| Date last edited |
2021-04-24 10:31:52 +02:00 (CEST) |

Variant on transcripts
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