Variant #0000605427 (NC_000001.10:g.235659543C>T, B3GALNT2(NM_152490.3):c.113-1405G>A)

Chromosome 1
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.235659543C>T
DNA change (hg38) g.235496233C>T
Published as B3GALNT2(NM_001277155.2):c.188G>A (p.(Gly63Asp))
ISCN -
DB-ID TBCE_000075
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.0023 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TBCE NM_003193.3 -?/. - c.*47466C>T r.(=) p.(=)
B3GALNT2 NM_152490.3 -?/. - c.113-1405G>A r.(=) p.(=)