Variant #0000088156 (NC_000001.10:g.235628992C>T, B3GALNT2(NM_152490.3):c.802G>A)

Individual ID 00057855
Chromosome 1
Allele Maternal (confirmed)
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.235628992C>T
DNA change (hg38) g.235465675C>T
Published as -
ISCN -
DB-ID B3GALNT2_000005 See all 3 reported entries
Variant remarks exome sequencing
Reference PubMed: Stevens 2013
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
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.802G>A r.(?) p.(Val268Met)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000057816 DNA SEQ;SEQ-NG-I - - B3GALNT2 2 Johan den Dunnen