Variant #0000764147 (NC_000008.10:g.43014192G>A, HGSNAT(NM_152419.2):c.493+5G>A)

Individual ID 00362228
Chromosome 8
Allele Parent #2
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.43014192G>A
DNA change (hg38) g.43159049G>A
Published as -
ISCN -
DB-ID HGSNAT_000060 See all 3 reported entries
Variant remarks -
Reference Fadaie 2021, submitted
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation no
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner Zeinab Fadaie
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HGSNAT NM_152419.2 +/. 4i c.493+5G>A r.372_493del p.(Arg124Serfs*25)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000363457 DNA SEQ-NG - - HGSNAT 2 Zeinab Fadaie