Variant #0000181291 (NC_000008.10:g.?, HGSNAT(NM_152419.2):c.641delG)

Individual ID 00112239
Chromosome 8
Allele Maternal (inferred)
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.?
DNA change (hg38) -
Published as -
ISCN -
DB-ID HGSNAT_000050
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) Genomic location of variant could not be determined
Owner Stéphanie Durand
Database submission license No license selected
Created by Stéphanie Durand




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HGSNAT NM_152419.2 +/. 7 c.641delG r.(?) p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000112697 DNA SEQ - - HGSNAT 2 Stéphanie Durand