Variant #0000464302 (NC_000008.10:g.43014064A>G, HGSNAT(NM_152419.2):c.372-2A>G)

Individual ID 00226233
Chromosome 8
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.43014064A>G
DNA change (hg38) g.43158921A>G
Published as -
ISCN -
DB-ID HGSNAT_000042 See all 6 reported entries
Variant remarks -
Reference PubMed: Martins 2019, Journal: Martins 2019
ClinVar ID -
dbSNP ID rs483352896
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 3.0E-5 View details
Owner Carla Martins
Database submission license No license selected
Created by Carla Martins
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HGSNAT NM_152419.2 +/. - c.372-2A>G r.spl p.[(Arg124Serfs*27,Leu125_Arg128del)]



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000227309 DNA SEQ - - HGSNAT 1 Carla Martins