Variant #0000321374 (NC_000001.10:g.235612073G>A, B3GALNT2(NM_152490.3):c.*1448C>T)

Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.235612073G>A
DNA change (hg38) g.235448758G>A
Published as TBCE(NM_001079515.1):c.1580G>A (p.(Trp527Ter))
ISCN -
DB-ID B3GALNT2_000014
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TBCE NM_003193.3 ?/. - c.1580G>A r.(?) p.(Trp527Ter)
B3GALNT2 NM_152490.3 ?/. - c.*1448C>T r.(=) p.(=)