Variant #0000605428 (NC_000001.10:g.235667499G>A, B3GALNT2(NM_152490.3):c.54C>T)

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.235667499G>A
DNA change (hg38) g.235504199G>A
Published as B3GALNT2(NM_152490.4):c.54C>T (p.H18=)
ISCN -
DB-ID TBCE_000076
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_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TBCE NM_003193.3 -?/. - c.*55422G>A r.(=) p.(=)
B3GALNT2 NM_152490.3 -?/. - c.54C>T r.(?) p.(His18=)