Variant #0000035943 (NC_000011.9:g.62384057C>T, B3GAT3(NM_012200.3):c.830G>A)

Individual ID 00016301
Chromosome 11
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.62384057C>T
DNA change (hg38) g.62616585C>T
Published as -
ISCN -
DB-ID B3GAT3_000001 See all 2 reported entries
Variant remarks not in 1144 control chromosomes
Reference PubMed: Baasanjav 2011, OMIM:var0001
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     
B3GAT3 NM_012200.3 +/? 4 c.830G>A r.(?) p.(Arg277Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000016219 DNA SEQ - - B3GAT3 1 Johan den Dunnen