Variant #0000604695 (NC_000001.10:g.1168553C>A, B3GALT6(NM_080605.3):c.895C>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.1168553C>A
DNA change (hg38) g.1233173C>A
Published as B3GALT6(NM_080605.4):c.895C>A (p.L299M)
ISCN -
DB-ID B3GALT6_000058
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) 9.0E-5 View details
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     

Predicted     

Type/DNA     
SDF4 NM_016176.3 ?/. - c.-1435G>T r.(?) p.(=) - -
B3GALT6 NM_080605.3 ?/. - c.895C>A r.(?) p.(Leu299Met) - -