Variant #0000188117 (NC_000001.10:g.44395825C>T, ST3GAL3(NM_174963.3):c.1267C>T)

Individual ID 00116804
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.44395825C>T
DNA change (hg38) g.43930153C>T
Published as -
ISCN -
DB-ID ST3GAL3_000006
Variant remarks stopgain variant
Reference PubMed: Bobbili 2018, Journal: Bobbili 2018
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/567 controls
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner Dheeraj Bobbili
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     
ST3GAL3 NM_174963.3 ./. - c.1267C>T r.(?) p.(Arg423*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000117272 DNA SEQ-NG - - - 1 Dheeraj Bobbili