Individual #00318161

ID_report Family 8
Reference PubMed: Alazami et al., 2016
Remarks The formal ID for this family is 12DG2397.The technique used was whole genome sequencing.
Gender -
Consanguinity -
Country -
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases EDS, EDSSPD2
Owner name Raymond Dalgleish
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Raymond Dalgleish


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000319343 DNA SEQ;SEQ-NG - - B3GALT6 1 Raymond Dalgleish



Variants

1 entry on 1 page. Showing entry 1.
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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 Both (homozygous) +/+ - pathogenic g.1168214T>C - - - B3GALT6_000023 - PubMed: Alazami et al., 2016 - - Unknown - - - 0 - Raymond Dalgleish B3GALT6 - - - - - 1 NM_080605.3:c.556T>C - r.(?) p.(Phe186Leu) - - - - - - - - - missense substitution - - - - - - - -
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