Variant #0000787574 (NC_000001.10:g.44386170C>T, ST3GAL3(NM_174963.3):c.1046C>T)

Individual ID 00374688
Chromosome 1
Allele Both (homozygous)
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.44386170C>T
DNA change (hg38) g.43920498C>T
Published as -
ISCN -
DB-ID ST3GAL3_000019
Variant remarks -
Reference 0
ClinVar ID -
dbSNP ID rs1201878175
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner LOVD
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     
ST3GAL3 NM_174963.3 ?/. 12 c.1046C>T r.(?) p.(Ala349Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000375882 DNA SEQ-NG - TruSight One panel CHD2 2 Johan den Dunnen