Variant #0000088113 (NC_000001.10:g.235628971_235628972dup, B3GALNT2(NM_152490.3):c.824_825dup)

Individual ID 00057858
Chromosome 1
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.235628971_235628972dup
DNA change (hg38) g.235465654_235465655dup
Published as 822_823dup
ISCN -
DB-ID B3GALNT2_000008 See all 4 reported entries
Variant remarks -
Reference PubMed: Stevens 2013
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
B3GALNT2 NM_152490.3 +/. 7 c.824_825dup r.(?) p.(Ile276Leufs*26)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000057819 DNA SEQ - - B3GALNT2 1 Johan den Dunnen