Variant #0000467294 (NC_000017.10:g.78187707_78194799del, NC_000017.10(NM_000199.3):c.-687_664-23del (SGSH))
| Individual ID |
00226370 |
| Chromosome |
17 |
| 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.78187707_78194799del |
| DNA change (hg38) |
g.80213908_80221000del |
| Published as |
g.75802301_75809393del |
| ISCN |
- |
| DB-ID |
SGSH_000042 See all 2 reported entries |
| Variant remarks |
- |
| Reference |
PubMed: Ouesleti 2011 |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2019-03-08 21:24:18 +01:00 (CET) |
| Date last edited |
2019-03-08 21:26:25 +01:00 (CET) |

Variant on transcripts
Screenings
|