Variant #0000314422 (NC_000001.10:g.235611729C>A, B3GALNT2(NM_152490.3):c.*1792G>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.235611729C>A
DNA change (hg38) g.235448414C>A
Published as TBCE(NM_001079515.2):c.1465C>A (p.L489I), TBCE(NM_001287801.2):c.1618C>A (p.L540I)
ISCN -
DB-ID B3GALNT2_000013 See all 2 reported entries
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) 0.00055 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.1465C>A r.(?) p.(Leu489Ile)
B3GALNT2 NM_152490.3 -?/. - c.*1792G>T r.(=) p.(=)