Variant #0000702035 (NC_000001.10:g.1168246del, B3GALT6(NM_080605.3):c.588del)

Individual ID 00318162
Chromosome 1
Allele Parent #1
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.1168246del
DNA change (hg38) -
Published as -
ISCN -
DB-ID B3GALT6_000006
Variant remarks -
Reference PubMed: Nakajima 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.588del r.(?) p.(Arg197Alafsāˆ—81) nonsense deletion



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000319344 DNA SEQ - - B3GALT6 2 Raymond Dalgleish