Variant #0000687823 (NC_000001.10:g.1168246dup, B3GALT6(NM_080605.3):c.588dup)

Chromosome 1
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.1168246dup
DNA change (hg38) -
Published as B3GALT6(NM_080605.4):c.588dupG (p.R197Afs*246)
ISCN -
DB-ID B3GALT6_000042 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) 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     

Predicted     

Type/DNA     
SDF4 NM_016176.3 +?/. - c.-1122dup r.(?) p.(=) - -
B3GALT6 NM_080605.3 +?/. - c.588dup r.(?) p.(Arg197AlafsTer246) - -