Individual #00046358

ID_report -
Reference PubMed: Lesnik Oberstein 2006
Remarks brother of 1201.5 / 68882; lymphocyte RNA
Gender M
Consanguinity -
Country Netherlands
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases Peters-plus syndrome
Owner name Martine van Belzen


Phenotypes

Peters-plus syndrome (-)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000034233 Ant.eye chamber anomaly, No Renal anomaly, Peters anomaly (HP:0000659) - - Familial - - - - - Martine van Belzen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000046463 RNA RT-PCR;SEQ - - B3GLCT 2 Martine van Belzen



Variants

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     

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Reference     

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Segregation     

Frequency     

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Owner     

Gene     

Codon change     

IDbase Accession Number     

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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     

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Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
13 Parent #1 ?/? g.31821241G>A g.31247104G>A 437+5G>A - B3GLCT_000003 - PubMed: Lesnik Oberstein 2006 - - Germline - - - 0 - Martine van Belzen B3GLCT - - - - - 5i NM_194318.3:c.347+5G>A - - r.spl? p.? - - - - - - - - - - - - - - - - - - -
13 Parent #2 ?/? 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.? - - - - - - - - - - - - - - - - - - -
Legend