Screening #0000046461

Individual ID 00046356
Template DNA
Technique SEQ
Tissue -
Remarks -
Variants found? 2
Owner name Martine van Belzen


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
B3GLCT beta 3-glucosyltransferase 13 q12.3 1 162 72 2019-06-28 Peters-plus syndrome



Variants found

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

Allele     

Effect     

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     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

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     

Protein level     
13 Maternal (confirmed) +/+ g.(31835220_31843350)_(31905653_?)del - (?_-142)_(*1848_?)del - B3GLCT_000001 partial gene deletion (exon 8-15), not as reported a full gene deletion PubMed: Lesnik Oberstein 2006 - - Germline - - - 0 - Martine van Belzen B3GLCT - - - - - 7i_15 NM_194318.3:c.(596+1_597-1)_(*1848_?)del - - r.? p.? - - - - - - - - - - - - - - - - - - -
13 Paternal (confirmed) +/+ g.31843415G>A g.31269278G>A 1020+1G>A - B3GLCT_000002 - PubMed: Lesnik Oberstein 2006 - - Germline - - - 0 - Martine van Belzen B3GLCT - - - - - 8i NM_194318.3:c.660+1G>A - - r.spl? p.? - - - - - - - - - - - - - - - - - - -
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