Variant #0000181270 (NC_000008.10:g.43002207G>A, HGSNAT(NM_152419.2):c.234+1G>A)

Individual ID 00112240
Chromosome 8
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.43002207G>A
DNA change (hg38) g.43147064G>A
Published as c.318+1G>A
ISCN -
DB-ID HGSNAT_000007 See all 13 reported entries
Variant remarks -
Reference PubMed: Hrebicek 2006
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 5.0E-5 View details
Owner Stéphanie Durand
Database submission license No license selected
Created by Stéphanie Durand
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HGSNAT NM_152419.2 +/. 2i c.234+1G>A r.spl p.(Asp40Valfs*19)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000112698 DNA SEQ - - HGSNAT 2 Stéphanie Durand