Variant #0000799179 (NC_000001.10:g.235658082C>T, B3GALNT2(NM_152490.3):c.169G>A)

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.235658082C>T
DNA change (hg38) -
Published as B3GALNT2(NM_152490.5):c.169G>A (p.V57M)
ISCN -
DB-ID TBCE_000095
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) 0.00026 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TBCE NM_003193.3 ?/. - c.*46005C>T r.(=) p.(=)
B3GALNT2 NM_152490.3 ?/. - c.169G>A r.(?) p.(Val57Met)