Variant #0000717517 (NC_000001.10:g.44202061G>C, ST3GAL3(NM_174963.3):c.128G>C)

Chromosome 1
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.44202061G>C
DNA change (hg38) -
Published as ST3GAL3(NM_001350619.1):c.128G>C (p.S43T), ST3GAL3(NM_174963.5):c.128G>C (p.S43T)
ISCN -
DB-ID ST3GAL3_000007 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00091 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ST3GAL3 NM_174963.3 -?/. - c.128G>C r.(?) p.(Ser43Thr)