Variant #0000357719 (NC_000001.10:g.44386520G>C, ST3GAL3(NM_174963.3):c.1165G>C)

Individual ID 00155023
Chromosome 1
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.44386520G>C
DNA change (hg38) g.43920848G>C
Published as 958G>C (Ala320Pro)
ISCN -
DB-ID ST3GAL3_000013 See all 2 reported entries
Variant remarks -
Reference PubMed: Edvardson 2013
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Andreas Kuss
Database submission license No license selected
Created by Andreas Kuss
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ST3GAL3 NM_174963.3 +/. 12 c.1165G>C r.(?) p.(Ala389Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000155887 DNA SEQ-NG-S - WES - 1 Andreas Kuss