Variant #0000314421 (NC_000001.10:g.235611650T>C, B3GALNT2(NM_152490.3):c.*1871A>G)

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.235611650T>C
DNA change (hg38) g.235448335T>C
Published as TBCE(NM_001079515.2):c.1400-14T>C
ISCN -
DB-ID B3GALNT2_000012
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) 0.00319 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TBCE NM_003193.3 -?/. - c.1400-14T>C r.(=) p.(=)
B3GALNT2 NM_152490.3 -?/. - c.*1871A>G r.(=) p.(=)