Variant #0000595603 (NC_000008.10:g.43014092G>C, HGSNAT(NM_152419.2):c.398G>C)

Individual ID 00263910
Chromosome 8
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.43014092G>C
DNA change (hg38) g.43158949G>C
Published as -
ISCN -
DB-ID HGSNAT_000125
Variant remarks -
Reference PubMed: Haer-Wigman 2015
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 Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HGSNAT NM_152419.2 +?/. - c.398G>C r.(?) p.(Gly133Ala)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000265020 DNA SEQ;SEQ-NG - WES HGSNAT 2 Johan den Dunnen