Screening #0000046513

Individual ID 00046408
Template DNA
Technique SEQ
Tissue -
Remarks -
Variants found? 22
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 1 162 72 2019-06-28 Peters-plus syndrome



Variants found

22 entries on 1 page. Showing entries 1 - 22.
Legend  

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 Unknown ?/? g.31796969G>C g.31222832G>C - - B3GLCT_000008 dbSNP: 0.97 - - rs2147515 Unknown - - - 0 - Johan den Dunnen B3GLCT - - - - - 2i NM_194318.3:c.121-120G>C - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
13 Unknown ?/? g.31797006A>G g.31222869A>G - - B3GLCT_000022 - - - rs3818415 Unknown - - - 0 - Johan den Dunnen B3GLCT - - - - - 2i NM_194318.3:c.121-83A>G - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
13 Unknown ?/? g.31821148T>C g.31247011T>C - - B3GLCT_000009 - - - rs34698943 Unknown - - - 0 - Johan den Dunnen B3GLCT - - - - - 4i NM_194318.3:c.271-12T>C - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
13 Unknown ?/? g.31821177C>T g.31247040C>T - - B3GLCT_000028 - - - rs9542305 Unknown - - - 0 - Johan den Dunnen B3GLCT - - - - - 5 NM_194318.3:c.288C>T - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
13 Unknown ?/? g.31821240C>T g.31247103C>T - - B3GLCT_000011 - - - rs9564692 Unknown - - - 0 - Johan den Dunnen B3GLCT - - - - - 5i NM_194318.3:c.347+4C>T - - r.spl? p.? - - - - - - - - - - - - - - - - - - -
13 Unknown ?/? g.31821241G>A g.31247104G>A - - B3GLCT_000003 - - - rs80338850 Unknown - - - 0 - Johan den Dunnen B3GLCT - - - - - 5i NM_194318.3:c.347+5G>A - - r.spl? p.? - - - - - - - - - - - - - - - - - - -
13 Unknown ?/? g.31821256C>G g.31247119C>G - - B3GLCT_000010 - - - rs9542307 Unknown - - - 0 - Johan den Dunnen B3GLCT - - - - - 5i NM_194318.3:c.347+20C>G - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
13 Unknown ?/? g.31821992C>T g.31247855C>T - - B3GLCT_000012 dbSNP: 0.02 - - rs4943266 Unknown - - - 0 - Johan den Dunnen B3GLCT - - - - - 6 NM_194318.3:c.348C>T - - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
13 Unknown ?/? g.31835269del g.31261132del - - B3GLCT_000013 - - - rs34409451 Unknown - - - 0 - Johan den Dunnen B3GLCT - - - - - 7i NM_194318.3:c.596+50del - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
13 Unknown ?/? g.31843328del g.31269191del - - B3GLCT_000014 rs35261337 - - rs3215787 Unknown - - - 0 - Johan den Dunnen B3GLCT - - - - - 7i NM_194318.3:c.597-23del - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
13 Unknown ?/? g.31843415G>A g.31269278G>A - - B3GLCT_000002 - - - rs80338851 Unknown - - - 0 - Johan den Dunnen B3GLCT - - - - - 8i NM_194318.3:c.660+1G>A - - r.spl? p.? - - - - - - - - - - - - - - - - - - -
13 Unknown ?/? g.31848657C>T g.31274520C>T - - B3GLCT_000015 dbSNP: 0.05 - - rs35019745 Unknown - - - 0 - Johan den Dunnen B3GLCT - - - - - 9 NM_194318.3:c.672C>T - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
13 Unknown ?/? g.31848718G>A g.31274581G>A - - B3GLCT_000026 - - - rs34830061 Unknown - - - 0 - Johan den Dunnen B3GLCT - - - - - 9 NM_194318.3:c.733G>A - - r.(?) p.(Val245Met) - - - - - - - - - - - - - - - - - - -
13 Unknown ?/? g.31848823A>G g.31274686A>G - - B3GLCT_000016 dbSNP: 0.19 - - rs728930 Unknown - - - 0 - Johan den Dunnen B3GLCT - - - - - 9i NM_194318.3:c.780+58A>G - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
13 Unknown ?/? g.31850989G>A g.31276852G>A - - B3GLCT_000018 dbSNP: 0.64 - - rs4065552 Unknown - - - 0 - Johan den Dunnen B3GLCT - - - - - 10i NM_194318.3:c.850+81G>A - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
13 Unknown ?/? g.31860769G>C g.31286632G>C - - B3GLCT_000019 dbSNP: 0.25 - - rs9543606 Unknown - - - 0 - Johan den Dunnen B3GLCT - - - - - 11i NM_194318.3:c.965-88G>C - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
13 Unknown ?/? g.31891684G>T g.31317547G>T - - B3GLCT_000029 - - - rs28668251 Unknown - - - 0 - Johan den Dunnen B3GLCT - - - - - 12i NM_194318.3:c.1065-19G>T - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
13 Unknown ?/? g.31891743G>A g.31317606G>A - - B3GLCT_000004 - - - rs34638481 Unknown - - - 0 - Johan den Dunnen B3GLCT - - - - - 13 NM_194318.3:c.1105G>A - - r.(?) p.(Gly369Ser) - - - - - - - - - - - - - - - - - - -
13 Unknown ?/? g.31891746A>G g.31317609A>G - - B3GLCT_000020 - - - rs1041073 Unknown - - - 0 - Johan den Dunnen B3GLCT - - - - - 13 NM_194318.3:c.1108A>G - - r.(?) p.(Lys370Glu) - - - - - - - - - - - - - - - - - - -
13 Unknown ?/? g.31903834T>G g.31329697T>G - - B3GLCT_000005 dbSNP: 0.54 - - rs1060709 Unknown - - - 0 - Johan den Dunnen B3GLCT - - - - - 15 NM_194318.3:c.*29T>G - - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
13 Unknown ?/? g.31905600G>A g.31331463G>A - - B3GLCT_000006 - - - rs912604 Unknown - - - 0 - Johan den Dunnen B3GLCT - - - - - 15 NM_194318.3:c.*1795G>A - - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
13 Unknown ?/? g.31905635A>G g.31331498A>G - - B3GLCT_000007 - - - rs912603 Unknown - - - 0 - Johan den Dunnen B3GLCT - - - - - 15 NM_194318.3:c.*1830A>G - - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
Legend