Variant #0000729834 (NC_000001.10:g.1168194_1168199dup, B3GALT6(NM_080605.3):c.536_541dup)

Individual ID 00331333
Chromosome 1
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.1168194_1168199dup
DNA change (hg38) g.1232814_1232819dup
Published as NM_080605.3:c.536_541dupGCCGCC:p.(Arg179_Arg180dup)
ISCN -
DB-ID B3GALT6_000025 See all 2 reported entries
Variant remarks -
Reference PubMed: Maddirevula 2018
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 LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predicted     

Type/DNA     
B3GALT6 NM_080605.3 +/. - c.536_541dup r.(?) p.(Arg179_Arg180dup) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000332552 DNA SEQ;SEQ-NG - WES B3GALT6 1 LOVD