Variant #0000467283 (NC_000008.10:g.43024218T>C, HGSNAT(NM_152419.2):c.564-98T>C)

Individual ID 00226237
Chromosome 8
Allele Both (homozygous)
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.43024218T>C
DNA change (hg38) g.43169075T>C
Published as -
ISCN -
DB-ID HGSNAT_000092 See all 3 reported entries
Variant remarks -
Reference PubMed: Martins 2019, Journal: Martins 2019
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 Carla Martins
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.564-98T>C r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000227314 DNA SEQ - - HGSNAT 3 Carla Martins