Variant #0000505991 (NC_000001.10:g.235600663G>T, B3GALNT2(NM_152490.3):c.*12858C>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.235600663G>T
DNA change (hg38) g.235437348G>T
Published as TBCE(NM_001079515.1):c.990G>T (p.(Lys330Asn))
ISCN -
DB-ID TBCE_000053
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) Variant not found in online data sets
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.990G>T r.(?) p.(Lys330Asn)
B3GALNT2 NM_152490.3 -?/. - c.*12858C>A r.(=) p.(=)