Variant #0000263478 (NC_000006.11:g.33246250G>A, WDR46(NM_005452.5):c.*803C>T)

Chromosome 6
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.33246250G>A
DNA change (hg38) g.33278473G>A
Published as B3GALT4(NM_003782.3):c.1054G>A (p.E352K)
ISCN -
DB-ID B3GALT4_000001
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
B3GALT4 NM_003782.3 ?/. - c.1054G>A r.(?) p.(Glu352Lys)
WDR46 NM_005452.5 ?/. - c.*803C>T r.(=) p.(=)
RPS18 NM_022551.2 ?/. - c.*2007G>A r.(=) p.(=)