Variant #0000717278 (NC_000001.10:g.235600709A>G, B3GALNT2(NM_152490.3):c.*12812T>C)

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.235600709A>G
DNA change (hg38) -
Published as TBCE(NM_001287801.2):c.1189A>G (p.K397E)
ISCN -
DB-ID TBCE_000090
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_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TBCE NM_003193.3 ?/. - c.1036A>G r.(?) p.(Lys346Glu)
B3GALNT2 NM_152490.3 ?/. - c.*12812T>C r.(=) p.(=)