Variant #0000000239 (NC_000017.10:g.78186056del, SGSH(NM_000199.3):c.763del)

Individual ID 00000030
Chromosome 17
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.78186056del
Reference -
DB-ID SGSH_000003
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Variome.ir
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Variome.ir
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Clinical classification     
SGSH NM_000199.3 +/+ - c.763del r.(?) p.(Gln255Argfs*9) pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000032 DNA SEQ-NG SGSH 1 Variome.ir