Variant #0000702009 (NC_000001.10:g.1167858C>T, B3GALT6(NM_080605.3):c.200C>T)

Individual ID 00318144
Chromosome 1
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Probably affects function
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.1167858C>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID B3GALT6_000033 See all 4 reported entries
Variant remarks -
Reference PubMed: Honey et al., 2016
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Raymond Dalgleish
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Raymond Dalgleish
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predicted     

Type/DNA     
B3GALT6 NM_080605.3 +/+? 1 c.200C>T r.(?) p.(Pro67Leu) missense substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000319326 DNA ? - - B3GALT6 2 Raymond Dalgleish