Screening #0000046728

Individual ID 00046619
Template DNA
Technique SEQ-NG
Tissue -
Remarks -
Variants found? 4
Owner name Johan den Dunnen


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
B3GLCT beta 3-glucosyltransferase 13 q12.3 1 113 42 2018-06-03 Peters-plus syndrome



Variants found

4 entries on 1 page. Showing entries 1 - 4.
Legend  

Chr     

Allele     

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     

Effect     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

Published as     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Effect in vitro     

Protein/Legacy     

CodonNr     

Method     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

FunctionalAnalysis/Result     

FunctionalAnalysis/Technique     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

FunctionalPrediction     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein/Stain     

Protein level     
13 Both (homozygous) g.31821256C>G g.31247119C>G - - B3GLCT_000010 - PubMed: Almomani 2011 - - Germline - - - 0 - Johan den Dunnen B3GLCT ?/. - - - - - 5i NM_194318.3:c.347+20C>G - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
13 Both (homozygous) g.31850989G>A g.31276852G>A - - B3GLCT_000018 - PubMed: Almomani 2011 - - Germline - - - 0 - Johan den Dunnen B3GLCT ?/. - - - - - 10i NM_194318.3:c.850+81G>A - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
13 Both (homozygous) g.31891746G>A g.31317609G>A - - B3GLCT_000048 - PubMed: Almomani 2011 - - Germline - - - 0 - Johan den Dunnen B3GLCT ?/. - - - - - 13 NM_194318.3:c.1108G>A - - - r.(?) p.(Glu370Lys) - - - - - - - - - - - - - - - - - - - - - - - - - - -
13 Both (homozygous) g.31903834G>T g.31329697G>T - - B3GLCT_000049 - PubMed: Almomani 2011 - - Germline - - - 0 - Johan den Dunnen B3GLCT ?/. - - - - - 15 NM_194318.3:c.*29G>T - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
Legend