Variant #0000260312 (NC_000001.10:g.1168173C>T, B3GALT6(NM_080605.3):c.515C>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.1168173C>T
DNA change (hg38) g.1232793C>T
Published as B3GALT6(NM_080605.4):c.515C>T (p.A172V)
ISCN -
DB-ID B3GALT6_000043 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 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00124 View details
Owner VKGL-NL_VUmc
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_VUmc
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predicted     

Type/DNA     
SDF4 NM_016176.3 -?/. - c.-1055G>A r.(?) p.(=) - -
B3GALT6 NM_080605.3 -?/. - c.515C>T r.(?) p.(Ala172Val) - -