Variant #0000181353 (NC_000008.10:g.43047538_43047574dup, HGSNAT(NM_152419.2):c.1342_1377+1dup)

Individual ID 00112307
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.43047538_43047574dup
DNA change (hg38) g.43192395_43192431dup
Published as c.1420_1456dup
ISCN -
DB-ID HGSNAT_000012
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) 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 +/. 13 c.1342_1377+1dup r.(?) p.(Val460GlyfsTer22)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000112765 DNA SEQ - - HGSNAT 2 Stéphanie Durand