Variant #0000181267 (NC_000008.10:g.42993715_42996053del, HGSNAT(NM_152419.2):c.1-1925_118+296del)

Individual ID 00112237
Chromosome 8
Allele Both (homozygous)
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.42993715_42996053del
DNA change (hg38) g.43138572_43140910del
Published as c.202+1G>A
ISCN -
DB-ID HGSNAT_000046 See all 2 reported entries
Variant remarks -
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 +/. 1 c.1-1925_118+296del r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000112695 DNA SEQ - - HGSNAT 1 Stéphanie Durand