Variant #0000848585 (NC_000001.10:g.235594028A>C, B3GALNT2(NM_152490.3):c.*19493T>G)

Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.235594028A>C
DNA change (hg38) -
Published as TBCE(NM_001079515.2):c.569A>C (p.K190T), TBCE(NM_001287801.2):c.569A>C (p.K190T)
ISCN -
DB-ID TBCE_000014 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) 0.00035 View details
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TBCE NM_003193.3 ?/. - c.569A>C r.(?) p.(Lys190Thr)
B3GALNT2 NM_152490.3 ?/. - c.*19493T>G r.(=) p.(=)