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 InternationalCreative Commons License
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)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SGSH NM_000199.3 +/. _1_5i c.-687_664-23del r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000227458 DNA SEQ - - SGSH 1 Johan den Dunnen


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