Variant #0000647990 (NC_000010.10:g.73767949G>A, CHST3(NM_004273.4):c.1160G>A)

Individual ID 00290133
Chromosome 10
Allele Parent #1
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.73767949G>A
DNA change (hg38) g.72008191G>A
Published as -
ISCN -
DB-ID CHST3_000023
Variant remarks 4 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs145384892
Origin Germline
Segregation -
Frequency 4/2785 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00181 View details
Owner Mohammed Faruq
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     
CHST3 NM_004273.4 -/. - c.1160G>A r.(?) p.(Arg387His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000291301 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq