Variant #0000132490 (NC_000001.10:g.1168246dup, B3GALT6(NM_080605.3):c.588dup)

Individual ID 00081681
Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.1168246dup
DNA change (hg38) g.1232866dup
Published as 588dup
ISCN -
DB-ID B3GALT6_000042 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
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.588dup r.(?) p.(Arg197Alafs*246) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000081811 DNA PCR Blood - B3GALT6 2 Cynthia Silveira