Variant #0000702020 (NC_000001.10:g.1168011del, B3GALT6(NM_080605.3):c.353del)

Individual ID 00318149
Chromosome 1
Allele Paternal (confirmed)
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.1168011del
DNA change (hg38) -
Published as -
ISCN -
DB-ID B3GALT6_000004 See all 2 reported entries
Variant remarks -
Reference PubMed: Caraffi et al., 2019
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 3.0E-5 View details
Owner Raymond Dalgleish
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Raymond Dalgleish
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predicted     

Type/DNA     
B3GALT6 NM_080605.3 +/+ 1 c.353del r.(?) p.(Asp118Alafs*160) nonsense deletion



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000319331 DNA SEQ-NG;PCR;SEQ - - B3GALT6 3 Raymond Dalgleish