Variant #0000686013 (NC_000008.10:g.43013853A>T, HGSNAT(NM_152419.2):c.370A>T)

Individual ID 00309727
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.43013853A>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID HGSNAT_000124 See all 4 reported entries
Variant remarks -
Reference PubMed: Kimchi 2018, PubMed: Sharon 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner Johan den Dunnen
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 +/. - c.370A>T r.spl p.(Cys79Valfs*20)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000310872 DNA SEQ;SEQ-NG - - HGSNAT 1 Johan den Dunnen