Variant #0000000280 (NC_000008.10:g.43027451A>G, HGSNAT(NM_152419.2):c.744-2A>G)

Individual ID 00000066
Chromosome 8
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.43027451A>G
Reference Varsome link: https://varsome.com/variant/hg19/NM_152419%3Ac.744-2A%3EG
DB-ID HGSNAT_000001
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     
HGSNAT NM_152419.2 +/+ - c.744-2A>G r.spl? p.? pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000069 DNA SEQ-NG HGSNAT 1 Variome.ir