Variant #0000702027 (NC_000001.10:g.1168171_1168178del, B3GALT6(NM_080605.3):c.513_520del)

Individual ID 00318156
Chromosome 1
Allele Unknown
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.1168171_1168178del
DNA change (hg38) -
Published as -
ISCN -
DB-ID B3GALT6_000011 See all 3 reported entries
Variant remarks -
Reference PubMed: Van Damme et al., 2018
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 Sofie Symoens
Database submission license No license selected
Created by Sofie Symoens
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predicted     

Type/DNA     
B3GALT6 NM_080605.3 +/+ 1 c.513_520del r.(?) p.(Glu174Alafs*266) frameshift deletion



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000319338 DNA SEQ-NG - - B3GALT6 2 Sofie Symoens