Variant #0000729831 (NC_000001.10:g.1168214T>C, B3GALT6(NM_080605.3):c.556T>C)

Individual ID 00331330
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.1168214T>C
DNA change (hg38) g.1232834T>C
Published as NM_080605.3:c.556T>C:p.(Phe186Leu)
ISCN -
DB-ID B3GALT6_000023 See all 7 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.556T>C r.(?) p.(Phe186Leu) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000332549 DNA SEQ;SEQ-NG - WES B3GALT6 1 LOVD