Individual #00318156

ID_report -
Reference PubMed: Van Damme et al., 2018
Remarks The technique used was the custom NGS Gene panel.
Gender -
Consanguinity -
Country United States
Population USA
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases EDS, EDSSPD2
Owner name Sofie Symoens
Database submission license No license selected
Created by Sofie Symoens


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000319338 DNA SEQ-NG - - B3GALT6 2 Sofie Symoens



Variants

2 entries on 1 page. Showing entries 1 - 2.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
1 Unknown +/+ - pathogenic g.1168171_1168178del - - - B3GALT6_000011 - PubMed: Van Damme et al., 2018 - - Unknown - - - 0 - Sofie Symoens B3GALT6 - - - - - 1 NM_080605.3:c.513_520del - r.(?) p.(Glu174Alafs*266) - - - - - - - - - frameshift deletion - - - - - - - -
1 Unknown +/+ - pathogenic g.1168583T>A - - - B3GALT6_000005 - PubMed: Van Damme et al., 2018 - - Unknown - - - 0 - Sofie Symoens B3GALT6 - - - - - 1 NM_080605.3:c.925T>A - r.(?) p.(Ser309Thr) - - - - - - - - - missense substitution - - - - - - - -
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