Variant #0000000331 (NC_000017.10:g.78186007G>A, SGSH(NM_000199.3):c.812C>T)

Individual ID 00000113
Chromosome 17
Allele Both (homozygous)
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.78186007G>A
Reference -
DB-ID SGSH_000006
Average frequency (gnomAD v.2.1.1) 0 View details
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.812C>T r.(?) p.(Thr271Met) likely pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000116 DNA SEQ-NG SGSH 1 Variome.ir