Variant #0000000291 (NC_000008.10:g.43028883C>T, HGSNAT(NM_152419.2):c.848C>T)

Individual ID 00000077
Chromosome 8
Allele Both (homozygous)
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.43028883C>T
Reference https://varsome.com/variant/hg19/chr8-43028883-C-T
DB-ID HGSNAT_000002
Average frequency (gnomAD v.2.1.1) 3.0E-5 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     
HGSNAT NM_152419.2 ./. - c.848C>T r.(?) p.(Pro283Leu) pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000080 DNA SEQ HGSNAT 1 Variome.ir