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
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