Variant #0000702040 (NC_000001.10:g.1168307G>A, B3GALT6(NM_080605.3):c.649G>A)

Individual ID 00318165
Chromosome 1
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.1168307G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID B3GALT6_000003
Variant remarks -
Reference PubMed: Malfait et al., 2013
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.649G>A r.(?) p.(Gly217Ser) missense substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000319347 DNA RT-PCR;SEQ - - B3GALT6 1 Raymond Dalgleish