Variant #0000320778 (NC_000001.10:g.44395844G>A, ST3GAL3(NM_174963.3):c.1286G>A)

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.44395844G>A
DNA change (hg38) g.43930172G>A
Published as ST3GAL3(NM_001270459.1):c.989G>A (p.(Arg330Gln))
ISCN -
DB-ID ST3GAL3_000012
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00074 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ARTN NM_057090.2 ?/. - c.-3930G>A r.(?) p.(=)
ST3GAL3 NM_174963.3 ?/. - c.1286G>A r.(?) p.(Arg429Gln)