Variant #0000132489 (NC_000001.10:g.1167840T>C, B3GALT6(NM_080605.3):c.182T>C)

Individual ID 00081681
Chromosome 1
Allele Paternal (confirmed)
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.1167840T>C
DNA change (hg38) g.1232460T>C
Published as -
ISCN -
DB-ID B3GALT6_000041
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predicted     

Type/DNA     
B3GALT6 NM_080605.3 +?/. 1 c.182T>C r.(?) p.(Val61Ala) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000081811 DNA PCR Blood - B3GALT6 2 Cynthia Silveira