Variant #0000260313 (NC_000001.10:g.1168180G>C, B3GALT6(NM_080605.3):c.522G>C)

Chromosome 1
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.1168180G>C
DNA change (hg38) g.1232800G>C
Published as B3GALT6(NM_080605.4):c.522G>C (p.E174D)
ISCN -
DB-ID B3GALT6_000044
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) 0.09345 View details
Owner VKGL-NL_VUmc
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_VUmc
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predicted     

Type/DNA     
SDF4 NM_016176.3 -/. - c.-1062C>G r.(?) p.(=) - -
B3GALT6 NM_080605.3 -/. - c.522G>C r.(?) p.(Glu174Asp) - -