Variant #0000181299 (NC_000008.10:g.43025833del, HGSNAT(NM_152419.2):c.739del)

Individual ID 00112263
Chromosome 8
Allele Maternal (confirmed)
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.43025833del
DNA change (hg38) g.43170690del
Published as -
ISCN -
DB-ID HGSNAT_000031 See all 3 reported entries
Variant remarks c.739delA from Italian mother, c.1516C>T from Belgian father
Reference PubMed: Feldhammer 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Stéphanie Durand
Database submission license No license selected
Created by Stéphanie Durand
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HGSNAT NM_152419.2 +/. 7 c.739del r.(?) p.(Arg247GlyfsTer29)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000112721 DNA SEQ - - HGSNAT 2 Stéphanie Durand