Variant #0001011290 (NC_000017.10:g.78188919_78188923del, NM_000199.3:c.265_269del (SGSH))

Individual ID 00455291
Chromosome 17
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.78188919_78188923del
DNA change (hg38) g.80215120_80215124del
Published as 265_269delTACGG
ISCN -
DB-ID SGSH_000193
Variant remarks -
Reference PubMed: Pollard 2016
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 2024-10-07 09:56:02 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SGSH NM_000199.3 +?/. - c.265_269del r.(?) p.(Tyr89AlafsTer45)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000456905 DNA SEQ - gene panel SGSH 2 Johan den Dunnen


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