Variant #0000473815 (NC_000001.10:g.1167674C>T, B3GALT6(NM_080605.3):c.16C>T)

Chromosome 1
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.1167674C>T
DNA change (hg38) g.1232294C>T
Published as -
ISCN -
DB-ID B3GALT6_000007 See all 3 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Cynthia Silveira
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Cynthia Silveira
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predicted     

Type/DNA     
B3GALT6 NM_080605.3 +?/+? 1 c.16C>T r.(?) p.(Arg6Trp) - -