Variant #0000630988 (NC_000001.10:g.44395811C>T, ST3GAL3(NM_174963.3):c.1253C>T)

Individual ID 00275682
Chromosome 1
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.44395811C>T
DNA change (hg38) g.43930139C>T
Published as NM_001270461.1:c.704C>T
ISCN -
DB-ID ST3GAL3_000017
Variant remarks -
Reference PubMed: Farajollahi 2020
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner Ehsan Razmara
Database submission license No license selected
Created by Ehsan Razmara
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ST3GAL3 NM_174963.3 +?/. - c.1253C>T r.(?) p.(Thr418Met)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000276840 DNA SEQ-NG Blood WES ST3GAL3 1 Ehsan Razmara