Variant #0000702004 (NC_000001.10:g.1167839G>C, NM_080605.3:c.181G>C (B3GALT6))

Individual ID 00318140
Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.1167839G>C
DNA change (hg38) -
Published as -
ISCN -
DB-ID B3GALT6_000022 See all 2 reported entries
Variant remarks -
Reference PubMed: Van Damme et al., 2018
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Sofie Symoens
Database submission license No license selected
Created by Sofie Symoens
Date created 2018-02-26 20:11:44 +01:00 (CET)
Date last edited 2020-11-06 14:21:37 +01:00 (CET)
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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.181G>C r.(?) p.(Val61Leu) missense substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000319322 DNA SEQ-NG - - B3GALT6 2 Sofie Symoens


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