Variant #0000088152 (NC_000001.10:g.235652527_235652528del, B3GALNT2(NM_152490.3):c.308_309del)

Individual ID 00057853
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.235652527_235652528del
DNA change (hg38) g.235489222_235489223del
Published as -
ISCN -
DB-ID B3GALNT2_000004 See all 5 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) 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 +/. 3 c.308_309del r.(?) p.(Val103Glyfs*10)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000057814 DNA SEQ;SEQ-NG-I - - B3GALNT2 2 Johan den Dunnen