Variant #0000717279 (NC_000001.10:g.235602115T>C, B3GALNT2(NM_152490.3):c.*11406A>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.235602115T>C
DNA change (hg38) -
Published as TBCE(NM_003193.5):c.1148T>C (p.L383P)
ISCN -
DB-ID TBCE_000091
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) Variant not found in online data sets
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.1148T>C r.(?) p.(Leu383Pro)
B3GALNT2 NM_152490.3 ?/. - c.*11406A>G r.(=) p.(=)