Variant #0000506004 (NC_000001.10:g.235658099T>C, B3GALNT2(NM_152490.3):c.152A>G)

Chromosome 1
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.235658099T>C
DNA change (hg38) g.235494789T>C
Published as B3GALNT2(NM_152490.4):c.152A>G (p.Y51C)
ISCN -
DB-ID TBCE_000062 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 -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00164 View details
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.*46022T>C r.(=) p.(=)
B3GALNT2 NM_152490.3 -/. - c.152A>G r.(?) p.(Tyr51Cys)