Variant #0000507602 (NC_000001.10:g.44395863C>T, ST3GAL3(NM_174963.3):c.1305C>T)

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.44395863C>T
DNA change (hg38) g.43930191C>T
Published as ST3GAL3(NM_174965.3):c.502C>T (p.R168C)
ISCN -
DB-ID ARTN_000002
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) 1.0E-5 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ARTN NM_057090.2 -?/. - c.-3911C>T r.(?) p.(=)
ST3GAL3 NM_174963.3 -?/. - c.1305C>T r.(?) p.(Arg435=)