Variant #0000620554 (NC_000001.10:g.235602230C>G, B3GALNT2(NM_152490.3):c.*11291G>C)

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.235602230C>G
DNA change (hg38) g.235438915C>G
Published as TBCE(NM_001287801.2):c.1416C>G (p.L472=), TBCE(NM_003193.5):c.1263C>G (p.L421=)
ISCN -
DB-ID TBCE_000072 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) 6.0E-5 View details
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TBCE NM_003193.3 -?/. - c.1263C>G r.(?) p.(Leu421=)
B3GALNT2 NM_152490.3 -?/. - c.*11291G>C r.(=) p.(=)